Separation of molecular species of glucosylceramide by high performance liquid chromatography of their benzoyl derivatives. (1/509)

The method of separation of glucosylceramide by HPLC was reported. Glucosylceramide was perbenzoylated and separated on a packed muBondapack C18 column, using methanol as eluting solvent. The pattern obtained by HPLC closely resembled that obtained by GLC of the TMS-glucosylceramide, and reflected the molecular species of fatty acid components. This method is reproducible, and sensitive as GLC. This method also can be used for analysis of higher glycolipids.  (+info)

Immunosurveillance of alglucerase enzyme therapy for Gaucher patients: induction of humoral tolerance in seroconverted patients after repeat administration. (2/509)

Alglucerase, a macrophage-targeted enzyme replacement therapy for Gaucher disease, has been successfully used for several years to improve clinical symptoms and reverse disease progression. As part of an immunosurveillance program, 1,122 Gaucher patients were monitored for antibody response to glucocerebrosidase, the active component of alglucerase. Seroconversion was detected in 142 patients (12.8%) by enzyme-linked immunosorbent assay (ELISA) and confirmed by radioimmunoprecipitation. The majority (75%) of the seroconverted population had no detectable levels of circulating inhibitory antibody as assessed by in vitro inhibition of enzymatic activity of the therapeutic molecule. Of the remaining patients with putative inhibitory antibodies, the majority had only low levels of serum inhibitory activity, which was transient. A very small number of patients were identified as developing true neutralizing antibodies, as defined by the development of antibodies that impacted clinical efficacy. Many of the patient antibody responses were also diminished with time. Eighty-two of the 142 seroconverted patients have stopped producing antibody to the molecule and appear tolerized. The mean time for humoral tolerization was 28 months from initiation of therapy. Of 64 seroconverted patients followed for at least 30 months of therapy, the tolerization rate was 93%. These results show that although 12.8% of the patients on therapy developed antibodies to the molecule, 90% of these patients became tolerized over time.  (+info)

Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher disease. (3/509)

Gaucher disease is an autosomal recessive inborn error of glycosphingolipid metabolism caused by the deficient activity of the lysosomal hydrolase, acid beta-glucosidase. Three phenotypically distinct subtypes result from different acid beta-glucosidase mutations encoding enzymes with absent or low activity. A severe neonatal type 2 variant who presented with collodion skin, ichthyosis, and a rapid neurodegenerative course had two novel acid beta-glucosidase alleles: a complex, maternally derived allele, E326K+L444P, and a paternally inherited nonsense mutation, E233X. Because the only other non-pseudogene-derived complex allele, D140H+E326K, also had the E326K lesion and was reported in a mild type 1 patient with a D140H+E326K/K157Q genotype, these complex alleles and their individual mutations were expressed and characterized. Because the E233X mutation expressed no activity and the K157Q allele had approximately 1% normal specific activity based on cross-reacting immunologic material (CRIM SA) in the baculovirus system, the residual activity in both patients was primarily from their complex alleles. In the type 1 patient, the D140H+E326K allele was neuroprotective, encoding an enzyme with a catalytic efficiency similar to that of the N370S enzyme. In contrast, the E326K+L444P allele did not have sufficient activity to protect against the neurologic manifestations and, in combination with the inactive E233X lesion, resulted in the severe neonatal type 2 variant. Thus, characterization of these novel genotypes with non-pseudogene-derived complex mutations provided the pathogenic basis for their diverse phenotypes.  (+info)

Accumulation of protein-bound epidermal glucosylceramides in beta-glucocerebrosidase deficient type 2 Gaucher mice. (4/509)

The epidermal permeability barrier for water is essentially maintained by extracellular lipid membranes within the interstices of the stratum corneum. Ceramides, the main components of these membranes, derive in large part from hydrolysis of glucosylceramides mediated by the lysosomal enzyme beta-glucocerebrosidase. As analyzed in this work, the beta-glucocerebrosidase deficiency in type 2 Gaucher mice (RecNci I) resulted in an accumulation of all epidermal glucosylceramide species accompanied with a decrease of the related ceramides. However, the levels of one ceramide subtype, which possesses an alpha-hydroxypalmitic acid, was not altered in RecNci I mice suggesting that the beta-glucocerebrosidase pathway is not required for targeting of this lipid to interstices of the stratum corneum. Most importantly, omega-hydroxylated glucosylceramides which are protein-bound to the epidermal cornified cell envelope of the transgenic mice accumulated up to 35-fold whereas levels of related protein-bound ceramides and fatty acids were decreased to 10% of normal control. These data support the hypothesis that in wild-type epidermis omega-hydroxylated glucosylceramides are first transferred enzymatically from their linoleic esters to proteins of the epidermal cornified cell envelope and then catabolized to protein-bound ceramides and fatty acids, thus contributing at least in part to the formation of the lipid-bound envelope.  (+info)

A comparison of the pharmacological properties of carbohydrate remodeled recombinant and placental-derived beta-glucocerebrosidase: implications for clinical efficacy in treatment of Gaucher disease. (5/509)

The objective of these studies was to characterize the macrophage mannose receptor binding and pharmacological properties of carbohydrate remodeled human placental-derived and recombinant beta-glucocerebrosidase (pGCR and rGCR, respectively). These are similar but not identical molecules that were developed as enzyme replacement therapies for Gaucher disease. Both undergo oligosaccharide remodeling during purification to expose terminal mannose sugar residues. Competitive binding data indicated carbohydrate remodeling improved targeting to mannose receptors over native enzyme by two orders of magnitude. Mannose receptor dissociation constants (Kd) for pGCR and rGCR were each 13 nmol/L. At 37 degrees C, 95% of the total macrophage binding was mannose receptor specific. In vivo, pGCR and rGCR were cleared from circulation by a saturable pathway. The serum half-life (t1/2) was 3 minutes when less than saturable amounts were injected intravenously (IV) into mice. Twenty minutes postdose, beta-glucocerebrosidase activity increased over endogenous levels in all tissues examined. Fifty percent of the injected activity was recovered. Ninety-five percent of recovered activity was in the liver. Parenchymal cells (PC), Kupffer cells (KC), and liver endothelium cells (LEC) were responsible for 75%, 22%, and 3%, respectively, of the hepatocellular uptake of rGCR and for 76%, 11%, and 12%, respectively, of the hepatocellular uptake of pGCR. Both molecules had poor stability in LEC and relatively long terminal half-lives in PC (t1/2 = 2 days) and KC (t1/2 = 3 days).  (+info)

Properties of beta-glucosidase in cultured skin fibroblasts from controls and patients with Gaucher disease. (6/509)

Membrane-bound beta-glucosidase from cultured skin fibroblasts can be solubilized in an active form by treatment of membrane preparations with a mixture of Triton X-100 and sodium taurocholate. Several properties of the solubilized enzyme have been studied in fibroblasts from normal, healthy individuals and from 14 patients with different clinical forms of Gaucher disease. The patients studied were classified as follows: group 1 consisted of 10 chronic patients, all (with one exception) of Ashkenazi Jewish origin; group 2 consisted of three black American patients with severe visceral symptoms, manifest from early childhood, but with no apparent neurological involvement; and group 3 consisted of a single white patient with the classical infantile form of the disease. Specific beta-glucosidase activity ranged from 6.6% to 16.5% mean control value in group 1 patients and from 4.1% to 5.8% in groups 2 and 3. When compared with the enzyme from control fibroblasts, the enzyme from chronic Gaucher patients (group 1) was more rapidly inactivated at 50 degrees C, had an altered pH curve, was less effectively inhibited by deoxycorticosterone-beta-glucoside, and was more effectively inhibited by deoxycorticosterone. The enzyme from patients in groups 2 and 3 was qualitatively indistinguishable from the control enzyme in terms of these parameters. No differences in Km (4-methylumbelliferyl-beta-glucoside) or sedimentation coefficient were found between the beta-glucosidases from control and Gaucher cells. The results demonstrate that cells from Ashkenazi Jewish patients with the chronic form of Gaucher disease contain a structurally altered form of beta-glucosidase. This enzyme differs both from normal beta-glucosidase and from the residual enzyme in patients of different ethnic origin and with clinically more severe forms of the disease.  (+info)

Enzyme therapy in Gaucher disease type 2: an autopsy case. (7/509)

A Japanese patient with Gaucher disease type 2 was treated with enzyme therapy, alglucerase, from 7 to 22 months of age. Whereas hematologic parameters were normalized and hepatosplenomegaly was alleviated, no improvement in neurologic symptoms occurred, and the patient died of respiratory failure at age 22 months. Postmortem examination revealed massive intra-alveolar infiltration of Gaucher cells in lungs and in the central nervous system, i.e., the presence of Gaucher cells in the perivascular Virchow-Robins spaces in the cortex and deep white matter and extensive lamilar necrosis with reactive proliferation of blood vessels and macrophage infiltration of the cerebral cortex. It is suggested that enzyme therapy, with thus far recommended dose, does not prevent long-term respiratory and central nervous system involvement in severe varients of Gaucher disease.  (+info)

Accuracy of preimplantation diagnosis of single-gene disorders by polar body analysis of oocytes. (8/509)

PURPOSE: A number of pitfalls in single-cell DNA analysis, including undetected DNA contamination, undetected allele drop out, and preferential amplification, may lead to misdiagnosis in preimplantation genetic diagnosis of single-gene disorders. METHODS: Preimplantation genetic diagnosis was performed by sequential first and second polar body analysis of oocytes in 26 couples at risk for having children with various single-gene disorders. Mutant genes were amplified simultaneously with linked polymorphic markers, and only embryos resulting from the mutation-free oocytes predicted by polar body analysis with confirmation by polymorphic marker testing were transferred back to patients. RESULTS: Overall 529 oocytes from 48 clinical cycles (26 patients) were tested, resulting in the transfer of 106 embryos in 44 clinical cycles. As many as 46 (9.6%) instances of allele dropout were observed, the majority (96%) of which were detected. Seventeen unaffected pregnancies were established, of which nine resulted in the birth of an unaffected child, and the rest are ongoing. CONCLUSIONS: A high accuracy of preimplantation genetic diagnosis of single-gene disorders is achieved by application of sequential analysis of the first and second polar body and multiplex polymerase chain reaction.  (+info)

Gaucher Disease at National Gaucher Foundation. Retrieved June 2012 "Gaucher Disease Genetics , About Gaucher Disease , ... Type II Gaucher's disease shows no particular preference for any ethnic group.[citation needed] Type III Gaucher's disease is ... Gaucher's disease or Gaucher disease (/ɡoʊˈʃeɪ/) (GD) is a genetic disorder in which glucocerebroside (a sphingolipid, also ... American actor Sphingolipidoses Lysosomal storage disease Niemann-Pick disease Fabry disease Tay-Sachs disease Krabbe disease ...
However, it was not until 1965 that the true biochemical nature of Gaucher's disease was understood. Gaucher PCE. De ... Gaucher was also founder of a journal on venereal disease called Annales des Maladies Vénériennes.[citation needed] He is ... At the time, Gaucher thought it to be a form of splenetic cancer, and published his findings in his doctorate thesis, titled De ... remembered for providing a description of a disorder that was to become known as Gaucher's disease. In 1882 while still a ...
If an accumulation occurs this will lead to Gaucher disease. The buildup of fatty substances can lead to weakening bones, liver ... Mignot C, Gelot A, De Villemeur TB (2013-01-01). "Gaucher disease". In Dulac O, Lassonde H, Sarnat HB (eds.). Pediatric ... May 2004). "Biochemical study on β-glucosidase in individuals with Gaucher's disease and normal subjects". Clinica Chimica Acta ...
Examples of lysosomal storage disorders include Gaucher's disease, Tay-Sachs disease, Sandhoff disease, and Sanfilippo syndrome ... Gaucher's disease. Miglustat and eliglustat are substrate reduction therapies for Gaucher's disease, inhibiting the synthesis ... Rossum AV, Holsopple M (1999). "Enzyme Replacement or Substrate Reduction? A Review of Gaucher Disease Treatment Options". ... Tay-Sachs disease. The disease occurs when harmful quantities of a fatty acid derivative called a ganglioside accumulate in the ...
ISBN 978-94-007-2216-3. "Gaucher Therapy, Alfataliglicerase, Being Purchased by Brazil". Gaucher Disease News. 2016-12-15. ... We'll begin selling the treatment for Gaucher's disease within a few weeks']. Bizportal (in Hebrew). Retrieved 3 May 2012. ... Food and Drug Administration in May 2012 as an orphan drug for the treatment of Type 1 Gaucher's disease. Protalix has licensed ... to treat adults with Gaucher disease in March 2013, and extended that approval to children in December 2016. Alidornase alfa ( ...
Mutations in the glucocerebrosidase gene cause Gaucher's disease, a lysosomal storage disease characterized by an accumulation ... Tamargo RJ, Velayati A, Goldin E, Sidransky E (July 2012). "The role of saposin C in Gaucher disease". Molecular Genetics and ... Lieberman RL (2011). "A Guided Tour of the Structural Biology of Gaucher Disease: Acid-β-Glucosidase and Saposin C". Enzyme ... Grabowski GA (2012). "Gaucher disease and other storage disorders". Hematology. American Society of Hematology. Education ...
The most common LSD is Gaucher's disease, which is due to deficiency of the enzyme glucocerebrosidase. Consequently, the enzyme ... lysosomal storage disease is inclusion cell disease. Metachromatic leukodystrophy is another lysosomal storage disease that ... Rosenbloom BE, Weinreb NJ (2013). "Gaucher disease: a comprehensive review". Critical Reviews in Oncogenesis. 18 (3): 163-175. ... Sidransky E (October 2012). "Gaucher disease: insights from a rare Mendelian disorder". Discovery Medicine. 14 (77): 273-281. ...
He spoke of Gaucher's disease. In 2002 Termeer was instrumental in bringing together 20 other high-profile health care leaders ... In 1991 the first version of Genzyme's orphan drug Alglucerase (brand name Ceredase), the only treatment for Gaucher's disease ... Deegan PB, Cox TM (2012). "Imiglucerase in the treatment of Gaucher disease: a history and perspective". Drug Design, ... "Imiglucerase and its use for the treatment of Gaucher's disease". Expert Opinion on Pharmacotherapy. 9 (11): 1987-2000. doi: ...
... , Pioneer Scientist in Gaucher Disease, Dies at 92". Gaucher Disease News. 17 June 2016. Brady RO, Gurin S. The ... Brady and his colleagues identified the enzymatic defects in Gaucher's disease, Niemann-Pick disease, Fabry disease and the ... Kampine JP, Brady RO, Kanfer JN, Feld M, Shapiro D. The diagnosis of Gaucher's disease and Niemann-Pick disease using small ... and effective enzyme replacement therapy for patients with Gaucher disease and Fabry disease. These were the first-ever enzyme ...
The main members of this group are Niemann-Pick disease, Fabry disease, Krabbe disease, Gaucher disease, Tay-Sachs disease and ... AB variant Glycolipids Fabry's disease Krabbe disease Metachromatic leukodystrophy Glucocerebrosides Gaucher's disease Lipid ... Gaucher Disease at National Gaucher Foundation. Retrieved June 2012 GM2 Gangliosidoses - Introduction And Epidemiology at ... Enzyme replacement therapy is available to treat mainly Fabry disease and Gaucher disease, and people with these types of ...
His father lived with Gaucher's disease. Kasher's brother is a rabbi. In his autobiography Kasher in the Rye: The True Tale of ...
"Enzyme Replacement Therapy for Gaucher Disease". National Gaucher Foundation. Retrieved 2017-06-08. Nagree, Murtaza S.; Scalia ... disease Infantile free sialic acid storage disease Glycogen storage diseases Type II Pompe disease Type IIb Danon disease Other ... Pompe disease was the first disease to be identified as an lysosomal storage disease in 1963, with L. Hers reporting the cause ... Lysosomal storage diseases include: Sphingolipidoses Ceramidase Farber disease Krabbe disease Infantile onset Late onset ...
It may result from Gaucher disease. Kashin-Beck disease Melnick-Needles syndrome Ovine chondrodysplasia Familial osteodysplasia ... Examples of the use of enzyme replacement therapy are mucopolysaccharidoses and Gaucher disease. Results have shown effectivity ... "Enzyme replacement and substrate reduction therapy for Gaucher disease". The Cochrane Database of Systematic Reviews. 2015 (3 ... Maffucci syndrome is a sporadic disease characterized by the presence of multiple enchondromas associated with multiple simple ...
"Gaucher Disease - The ICGG Gaucher Registry". www.gauchercare.com. Archived from the original on 2014-08-26. Retrieved 2014-08- ... PatientCrossroads - pan disease patient registries International Collaborative Gaucher Group (ICGG) Gaucher Registry is largest ... More than 130 million Americans live with chronic diseases and chronic diseases account for 70% of all deaths in the US. "The ... Another example of disease registry is the New York State CABG Registry that tracks all cardiac bypass surgery performed in the ...
Gaucher's Disease is caused by an accumulation of glucosphingolipids in the body tissues and bone marrow. LPAs are a precursor ... It is important to note that even though the increased activity of the enzyme has been found in patients with Gaucher's Disease ... Gaucher's Disease is another disorder in which lysophosphatidic acid phosphatase is found in irregular concentrations. ... Robinson DB, Glew RH (March 1980). "Acid phosphatase in Gaucher's disease" (PDF). Clinical Chemistry. 26 (3): 371-382. doi: ...
Zimran A, Sorge J, Gross E, Kubitz M, West C, Beutler E (1990). "A glucocerebrosidase fusion gene in Gaucher disease. ... implications for Gaucher disease". Am. J. Hum. Genet. 59 (3): 740-1. PMC 1914901. PMID 8751878. Winfield SL, Tayebi N, Martin ... implications for Gaucher disease". Genome Res. 7 (10): 1020-6. doi:10.1101/gr.7.10.1020. PMC 310674. PMID 9331372. Martínez- ... "A novel transcript from a pseudogene for human glucocerebrosidase in non-Gaucher disease cells". Gene. 136 (1-2): 365-8. doi: ...
Gaucher's disease is a sphingolipidosis described by a particular inadequacy in acidic glucocerebrosidase, which results in ... Gaucher disease is caused by mutations in GBA1, which encodes the lysosomal catalyst glucocerebrosidase (GCase). GBA1 ... Gaucher's disease has been associated with instances of leukemia, myeloma, glioblastoma, lung malignancy, and hepatocellular ... Some suggest that the impacts of Gaucher's disease might be connected to malignant growth, while others ensnare the treatments ...
He found that cerebroside accumulated in Gaucher's disease. In 1935 Klenk discovered a new group of glycosphingolipids in the ... By elucidating the structure of the glucocerebrosides, he pioneered the field of lipidoses (or lipid storage diseases). His ... and diseases caused by biolipid disorders. Klenk's father had a farm and a brewery in the Black Forest. However, Klenk did not ... builds up pathologically in the cells of victims of Tay-Sachs disease.) Klenk discovered that N-acetylneuraminic acid is a ...
Low levels of this enzyme cause Gaucher's disease. Alpha-synuclein, a protein encoded by SNCA gene mutations, is the main ... Parkinson's disease dementia becomes common in advanced stages of the disease. The motor symptoms of the disease result from ... Some autoimmune diseases may even increase one's risk of developing PD, up to 33% in one study. Autoimmune diseases linked to ... The stage of the disease and the age at disease onset determine which group is most useful. Braak staging of PD uses six stages ...
... copy of the Gaucher disease gene, GBA. People with type I Gaucher have a defect in the enzyme called glucocerebrosidase (also ... is a medication used to treat type I Gaucher disease and Pompe disease. It was approved for medical use in the European Union ... Gaucher disease: a position statement". Journal of Inherited Metabolic Disease. 26 (6): 513-526. doi:10.1023/a:1025902113005. ... Miglustat is indicated to treat adults with mild to moderate type I Gaucher disease for whom enzyme replacement therapy is ...
Mutations in GBA are known to cause Gaucher's disease. Genome-wide association studies, which search for mutated alleles with ... "The dardarin G 2019 S mutation is a common cause of Parkinson's disease but not other neurodegenerative diseases". Neuroscience ... Parkinson's disease (PD) is a degenerative disorder of the central nervous system. Most people with PD have idiopathic ... Traditionally, Parkinson's disease has been considered a non-genetic disorder. However, around 15% of individuals with PD have ...
Davidson BA, Hassan S, Garcia EJ, Tayebi N, Sidransky E (December 2018). "Exploring genetic modifiers of Gaucher disease: The ... Twenty-four percent of patients have disease onset before 1 year of age, and 77% of patients have disease onset before 10 years ... As of 2020, over 260 cases of DADA2 have been identified since the disease's discovery in 2014. Since this disease is inherited ... As of 2021, there are 117 known mutations, although classification into disease-causing and benign is ongoing. This disease is ...
It may have an increased prevalence in Gaucher's disease. Diagnosis of pinguecula is usually done by an eye care professional ... Myron, Yanoff; Jay S., Duker (2019). "Cornea and ocular surface diseases". Ophthalmology (5th ed.). Edinburgh: Elsevier. p. 206 ... 2007). 2007-2008 Basic and Clinical Science Course Section 8: External Disease and Cornea. American Academy Ophthalmology. p. ...
... , sold under the brand name Vpriv, is a medication used for the treatment of Gaucher disease Type 1. It is a ... Velaglucerase alfa is indicated for long-term enzyme-replacement therapy (ERT) in people with type-1 Gaucher disease. "Vpriv- ... "Shire Announces FDA Approval Of Vpriv (velaglucerase Alfa For Injection) For The Treatment Of Type 1 Gaucher Disease". Medical ... Burrow TA, Grabowski GA (February 2011). "Velaglucerase alfa in the treatment of Gaucher disease type 1". Clinical ...
Mutations in SCARB2 have also been shown to cause Gaucher disease and myoclonic epilepsy, as LIMP-2 is critical for the proper ... Mutations in LIMP-2 have been shown to cause Gaucher disease, myoclonic epilepsy, and action myoclonus-renal failure syndrome. ... the enzyme deficient in Gaucher disease) to lysosomes. SCARB2 is a receptor for two viruses that cause hand, foot, and mouth ... "A mutation in SCARB2 is a modifier in Gaucher disease". Human Mutation. 32 (11): 1232-8. doi:10.1002/humu.21566. PMC 3196787. ...
In Gaucher's disease, the enzyme glucocerebrosidase is nonfunctional and cannot break down glucocerebroside into glucose and ... Glucosylceramide synthase Gaucher's disease Glucocerebrosidase Stirnemann J, Belmatoug N, Camou F, Serratrice C, Froissart R, ... Baris HN, Cohen IJ, Mistry PK (Sep 2014). "Gaucher Disease: The Metabolic Defect, Pathophysiology, Phenotypes And Natural ... "A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments". International Journal of Molecular Sciences ...
In 1991 the FDA approved the first version of Genzyme's orphan drug alglucerase, the only treatment for Gaucher's disease.: 123 ... Deegan PB, Cox TM (2012). "Imiglucerase in the treatment of Gaucher disease: a history and perspective". Drug Design, ... "Imiglucerase and its use for the treatment of Gaucher's disease". Expert Opinion on Pharmacotherapy. 9 (11): 1987-2000. doi: ... "The long-term international safety experience of imiglucerase therapy for Gaucher disease". Molecular Genetics and Metabolism. ...
A defect in the degradation of glucocerebrosides is Gaucher's disease. The corresponding defects for galactocerebrosides are: a ... "Krabbe Disease". National Institute of Neurological Disorders and Stroke. National Institutes of Health. Retrieved 3 August ... Krabbe disease. Jurevics, H; Hostettler, J; Muse, ED; Sammond, DW; Matsushima, GK; Toews, AD; Morell, P (May 2001). " ... Ceramide trihexoside (globotriaosylceramide) accumulation - Fabry's disease. Clinical features include acroparaesthesia ( ...
... is a medication used in the treatment of Gaucher's disease. It is a recombinant DNA-produced analogue of the human ... August 1978). "Gaucher disease: Isolation and comparison of normal and mutant glucocerebrosidase from human spleen tissue". ... It is given intravenously after reconstitution as a treatment for Type 1 and Type 3 Gaucher's disease. It is available in ... Weinreb NJ (August 2008). "Imiglucerase and its use for the treatment of Gaucher's disease". Expert Opin Pharmacother. 9 (11): ...
Beutler E, Beutler L, West C (2004). "Mutations in the gene encoding cytosolic beta-glucosidase in Gaucher disease". J. Lab. ... 2010). "The cytosolic beta-glucosidase GBA3 does not influence type 1 Gaucher disease manifestation". Blood Cells Mol. Dis. 46 ...
Gaucher Disease at National Gaucher Foundation. Retrieved June 2012 "Gaucher Disease Genetics , About Gaucher Disease , ... Type II Gauchers disease shows no particular preference for any ethnic group.[citation needed] Type III Gauchers disease is ... Gauchers disease or Gaucher disease (/ɡoʊˈʃeɪ/) (GD) is a genetic disorder in which glucocerebroside (a sphingolipid, also ... American actor Sphingolipidoses Lysosomal storage disease Niemann-Pick disease Fabry disease Tay-Sachs disease Krabbe disease ...
Gaucher disease is a rare, inherited disorder in which you do not have enough of an enzyme called glucocerebrosidase. Learn ... Learning about Gaucher Disease (National Human Genome Research Institute) * Lipid Storage Diseases (National Institute of ... Gaucher disease is a rare, inherited disorder. It is a type of lipid metabolism disorder. If you have it, you do not have ... Gaucher Disease (National Institute of Neurological Disorders and Stroke) Also in Spanish ...
Eliglustat can treat type 1 Gauchers disease almost as effectively as enzyme replacement therapy, new research shows. ... Although Gauchers disease is pan-ethnic, type 1 is the most common inherited Jewish genetic disease. It affects about 1 in 450 ... Gauchers disease, also known as glucocerebrosidase deficiency, is an autosomal recessive disease that affects about 1 in ... He said he hopes that such an option will eventually be used to treat people with types 2 and 3 Gauchers disease. These ...
Gaucher disease is a lipid storage disease characterized by the deposition of glucocerebroside in cells of the macrophage- ... All forms of Gaucher disease are panethnic. Type 1 Gaucher disease is one of the most common lysosomal storage diseases and is ... encoded search term (Gaucher Disease) and Gaucher Disease What to Read Next on Medscape ... NIH Technology Assessment Panel on Gaucher Disease. Gaucher disease. Current issues in diagnosis and treatment. JAMA. 1996 Feb ...
EMA and FDA aim to slash Gaucher disease R&D costs US and European regulators want to promote the development of drugs for ... Episode one of Kantars Health Heroes podcast looks at caregiving challenges for Gaucher disease and how patient registries can ... health heroes in the spotlight debuts in the runup to Rare Diseases Day 2020 with an instalment focusing on Gaucher disease. ... paediatric Gaucher disease, moves which could also apply to other rare diseases in children. ...
Find our selection of Gaucher Disease products at great low prices. ...
Impact on Diagnosis/Treatment of Parkinsons disease: Results in support of our hypothesis will shed new light on the role of ... to measure precise content and localization of brain glycosphingolipids in tissues from people with PD and Gaucher disease. We ... is the most prevalent risk factor for Parkinsons disease (PD). The resulting deficit in GCase activity leads to accumulation ... Impact on Diagnosis/Treatment of Parkinsons disease: Results in support of our hypothesis will shed new light on the role of ...
In families where one parent and at least one child were affected, variability in the clinical subtype of Gaucher disease type ... Considerable clinical variability occurs in adult Gaucher disease type I and three main subtypes may be delineated: a very mild ... of published reports showed that when both parents were heterozygous and more than one child was affected with Gaucher disease ... We propose that the three different clinical subtypes of this disease reflect the genetic heterogeneity of two alleles, G1a and ...
The Gaucher disease diagnostic journey can be long, but new diagnostic aids offer hope for a faster, more accurate process. ... journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher disease expert ... Gaucher disease diagnostic woes. Gaucher disease is a rare inherited condition, affecting only one person out of 40,000 people ... Gaucher and Other Rare Genetic Disease Diagnosis. According to recent research, as many as 14 percent of people with Gaucher ...
Find Gaucher disease support groups and other Gaucher disease resources for patients, their caregivers and families. ... Resources related to prenatal screening and genetic counseling for Gaucher disease.. We also provide resources where you can ... We have gathered useful resources for patients with Gaucher disease and their families to provide additional support, ... Gaucher Disease *Gaucher Disease *What Is Gaucher Disease? *Type 1. *Types 2 and 3 ...
Gaucher Disease: Biomarker Panel (ACE, CHITO, TRAP) Enzyme Activities (BM ...
Gaucher disease A strategic collaborative approach from EMA and FDA Gaucher disease A Strategic Collaborative Approach from EMA ... The neurological manifestations of Gaucher disease type 1: the French Observatoire on Gaucher disease (FROG). J Inherit Metab ... Carrier screening for Gaucher disease: lessons for low-penetrance, treatable diseases. JAMA 2007;298:1281-90.doi:10.1001/jama. ... Distribution of disease complications and comorbid conditions for the Gaucher disease population, overall and by ERT use, 2014 ...
Gaucher disease is a lipid storage disease characterized by the deposition of glucocerebroside in cells of the macrophage- ... All forms of Gaucher disease are panethnic. Type 1 Gaucher disease is one of the most common lysosomal storage diseases and is ... encoded search term (Gaucher Disease) and Gaucher Disease What to Read Next on Medscape ... NIH Technology Assessment Panel on Gaucher Disease. Gaucher disease. Current issues in diagnosis and treatment. JAMA. 1996 Feb ...
"Gaucher Disease" by people in this website by year, and whether "Gaucher Disease" was a major or minor topic of these ... "Gaucher Disease" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH (Medical Subject ... Ginns EI, Ryan E, Sidransky E. Gaucher disease in the COVID-19 pandemic environment: The good, the bad and the unknown. Mol ... Therapy for Gaucher disease: dont stop thinking about tomorrow. Mol Genet Metab. 2007 Feb; 90(2):122-5. ...
Home » Medically Related » Pharma/FDA News » FDA Approves New Drug for Treating Genetic Disease Gaucher From Protalix and ... Gaucher disease stems from an enzyme deficiency that prevents the breakdown of certain fats in the body. It can cause organ ... FDA Approves New Drug for Treating Genetic Disease Gaucher From Protalix and Pfizer-Will Compete With Genzyme and Help Fill ... The competitor for the drug for the rare genetic disease was purchased by Sanofi last year for a huge amount and they also ...
Gaucher disorder is an inherited disorder that results from the deficiency of an enzyme responsible for breaking down a fatty ... Low levels of an enzyme (glucocerebrosidase) allow lipid-laden cells, called Gaucher cells, to build up in tissues like the ...
Gaucher disease is a lipid storage disease characterized by the deposition of glucocerebroside in cells of the macrophage- ... encoded search term (Gaucher Disease) and Gaucher Disease What to Read Next on Medscape ... NIH Technology Assessment Panel on Gaucher Disease. Gaucher disease. Current issues in diagnosis and treatment. JAMA. 1996 Feb ... Parkinson disease: This is more common in patients with Gaucher disease and GBA1 mutation carriers. Subjects with Parkinson ...
National Gaucher Foundation. Gaucher disease types 2 and 3. https://www.gaucherdisease.org/about-gaucher-disease/what-is/type-2 ... How is Gaucher disease inherited? The general population without Gaucher disease has two copies of the GBA gene that provides ... Gaucher disease type 1. *Affects one in 40,000 people, or around 95 percent of all Gaucher disease cases in western countries2 ... Gaucher disease at a glance Gaucher disease is a rare genetic disorder resulting from a deficiency of the enzyme ...
There exist three phenotypic expressions of the Gauchers disease. Dependent of the severe of the disease, the disease shows ... www.childrensgaucher.org/about-gaucher/gaucher-basics/ Gene and mutations associated with the disease. *The cause of Gaucher ... The genetic disease, Gauchers disease, causes a disorder of the lipid metabolism. Through this sphingolipidosis (lysosomal ... According to National Gaucher Foundation (USA) nearly 1 person in 20,000 has Gauchers disease. ...
There exist three phenotypic expressions of the Gauchers disease. Dependent of the severe of the disease, the disease shows ... www.childrensgaucher.org/about-gaucher/gaucher-basics/ Gene and mutations associated with the disease. *The cause of Gaucher ... The Type III of Gauchers disease begins in childhood or adolescence. The disease progress is slower than in type II. But liver ... The genetic disease, Gauchers disease, causes a disorder of the lipid metabolism. Through this sphingolipidosis (lysosomal ...
Gaucher Disease (GD) is a rare, inherited, autosomal recessive genetic disease affecting around 1 in 50,000 to 1 in 100,000 ... Gaucher disease is a rare, autosomal recessively inherited disorder caused by mutations of the GBA gene. This gene has been ... Gauchers disease is a pan-ethnic disorder that has had major focus in developed countries with populations of European origin. ... "Gaucher cells" being present are characteristic of the disease. In GD, glucocerebroside accumulates in macrophage cells as the ...
Gaucher disease is a lipid storage disease characterized by the deposition of glucocerebroside in cells of the macrophage- ... All forms of Gaucher disease are panethnic. Type 1 Gaucher disease is the most common lysosomal storage disease and is the most ... encoded search term (Gaucher Disease) and Gaucher Disease What to Read Next on Medscape ... NIH Technology Assessment Panel on Gaucher Disease. Gaucher disease. Current issues in diagnosis and treatment. JAMA. 1996 Feb ...
Gaucher disease is an inherited genetic disorder with no cure. There are treatments for symptoms of type 1 and the non- ... Gaucher (go-SHAY) disease is a rare, inherited genetic disorder. While Gaucher disease is rare, it is one of the most common of ... Treatments for Gaucher disease. There is no cure for Gaucher disease but there are treatments for symptoms of type 1 and the ... Types of Gaucher disease. There are 3 types of Gaucher disease, and types 1 and 3 are treatable:1-4 ...
Gaucher Disease - Etiology, pathophysiology, symptoms, signs, diagnosis & prognosis from the MSD Manuals - Medical Professional ... Symptoms and signs of type I Gaucher disease include splenohepatomegaly, bone disease (eg, osteopenia, pain crises, osteolytic ... Type II Gaucher disease Type II (acute neuronopathic) is rarest, and residual enzyme activity in this type is lowest. Onset ... Type III Gaucher disease Type III (subacute neuronopathic) falls between types I and II in incidence, enzyme activity, and ...
The recommended starting dose for the treatment of adult patients with type 1 Gaucher disease is 100 mg three times a day. ... Miglustat is indicated for the oral treatment of adult patients with mild to moderate type 1 Gaucher disease. Miglustat may be ... Miglustat is indicated for the treatment of adult patients with mild to moderate type 1 Gaucher disease and for the treatment ... used in combination with cipaglucosidase alfa for long-term enzyme replacement therapy in adults with late-onset Pompe disease ...
Gaucher disease is a genetic condition passed down through families. This is a lysosomal storage disorder, causing fatty ... 2. Is Gauchers disease fatal?. Gaucher disease type 2 is a rare form of the disease that affects the nervous system. It is a ... Types of Gaucher Disease. *Type 1: This is the most common form of Gaucher disease. It affects nearly 90% of people who ... The complications of Gauchers Disease. Gaucher disease can cause other health problems, such as: ...
Parkinson disease associated with Gaucher disease is indistinguishable from other Parkinson disease, although Parkinson disease ... Trusted Information on Gaucher disease. Gaucher disease (GD) is a rare genetic condition that affects the bones, liver, spleen ... In type 3 Gaucher disease, symptoms usually develop in childhood. They have all the symptoms of type 1 Gaucher disease; however ... Carriers for Gaucher disease are generally healthy. Family studies suggest that carriers for Gaucher disease are at increased ...
Posted in News , Tagged adam rose, gaucher awareness, Gaucher awareness month, gaucher community alliance, gaucher video, gca ... gaucher community alliance. Gaucher Awareness Video Premiere. Posted on August 31, 2021. , Leave a Comment on Gaucher Awareness ... The Gaucher Community Alliance is premiering its new video campaign to raise awareness about Gaucher disease during Octobers ... The Lysosomal Disease Network (U54NS065768) is a part of the National Institutes of Health (NIH) Rare Diseases Clinical ...
Learn and reinforce your understanding of Gaucher disease (NORD). ... Gaucher disease (NORD) Videos, Flashcards, High Yield Notes, & ... There are three major types of Gaucher disease, depending on which tissues are most affected. In type 1 Gaucher disease, bone ... In Gaucher disease, the GBA gene is faulty, meaning it has a mutation that leads to a reduction in the level or activity of ... Gaucher disease (GD) is a rare, inherited disorder that affects the bodys ability to break down glucocerebroside molecules, ...
  • Low levels of an enzyme (glucocerebrosidase) allow lipid-laden cells, called Gaucher cells, to build up in tissues like the spleen, liver, and bone marrow, resulting in inflammation, immune dysfunction, and progressive organ involvement. (lysosomalcenter.org)
  • The Macrophages that are affected by such a accumulation are called Gaucher cells. (tu-muenchen.de)
  • Therefore, the waste product accumulates in fibrils and turns into so called Gaucher cells (that resemble crumpled-up paper on light microscopy). (tu-muenchen.de)
  • If the body does not have enough enzymes, fatty chemicals (called Gaucher cells) build up in the organs, bone marrow , and brain. (relainstitute.com)
  • These transformed macrophages are called Gaucher cells, and they accumulate in multiple organs and tissues, including the bone marrow, liver, and spleen . (osmosis.org)
  • Some forms of Gaucher's disease may be treated with enzyme replacement therapy. (wikipedia.org)
  • SAN DIEGO - Eliglustat ( Cerdelga , Genzyme), a new oral treatment for type 1 Gaucher's disease, works almost as well as intravenous enzyme replacement therapy with imiglucerase, new research shows. (medscape.com)
  • Enzyme replacement therapy (ERT) is indicated for patients with type 1 and type 3 Gaucher disease who exhibit clinical signs and symptoms of the disease, including anemia, thrombocytopenia, skeletal disease, or visceromegaly. (medscape.com)
  • Objective To characterise a population-based cohort of patients with Gaucher disease (GD) in Israel relative to the general population and describe sociodemographic and clinical differences by disease severity (ie, enzyme replacement therapy [ERT] use). (bmj.com)
  • Sidransky E, Pastores GM, Mori M. Dosing enzyme replacement therapy for Gaucher disease: older, but are we wiser? (medscape.com)
  • Andersson H, Kaplan P, Kacena K, Yee J. Eight-year clinical outcomes of long-term enzyme replacement therapy for 884 children with Gaucher disease type 1. (medscape.com)
  • Individualization of long-term enzyme replacement therapy for Gaucher disease. (medscape.com)
  • The standard of care for Gaucher disease is enzyme replacement therapy, or ERT, requiring life-long infusions, often on a biweekly basis. (avrobio.com)
  • The oral glucosylceramide (glucocerebroside) synthase inhibitor eliglustat, approved by the FDA for treatment of Gaucher disease type 1 (GD1) in August 2014, has proven as effective as intravenous enzyme replacement therapy with imiglucerase. (medscape.com)
  • Also, miglustat must be used in combination with cipaglucosidase alfa for long-term enzyme replacement therapy in adults with late-onset Pompe disease (acid α-glucosidase [GAA] deficiency). (rxreasoner.com)
  • In contact with a dear friend who courageously endures laborious kidney dialysis three times a week, I was reminded of when I first started the "Enzyme Replacement Therapy" via infusion for Gaucher disease, almost 24 years ago. (blogspot.com)
  • NEW YORK (Reuters Health) - Alglucerase/imiglucerase enzyme-replacement therapy (ERT) has reduced the need for potentially harmful procedures in patients with Gaucher disease type 1, according to registry data. (medscape.com)
  • As Dr. Pramod K. Mistry told Reuters Health by email, "Prior to the introduction of alglucerase/imiglucerase enzyme-replacement therapy for Gaucher disease type 1, patients tended to have had prior splenectomy and destructive skeletal complications, such as bone crises and avascular necrosis. (medscape.com)
  • In addition, the strong commercialization of enzyme replacement therapy based FDA approved drugs like Cerezyme, Vpriv, and Elelyso coupled with the growing government's initiatives to promote the Gaucher disease awareness programs also boosts the growth of Gaucher disease drugs market. (meridianmarketconsultants.com)
  • As per the National Gaucher Foundation, this disease can be treated with two currently available options, including enzyme replacement therapy and substrate reduction therapy. (meridianmarketconsultants.com)
  • Gaucher's disease or Gaucher disease (/ɡoʊˈʃeɪ/) (GD) is a genetic disorder in which glucocerebroside (a sphingolipid, also known as glucosylceramide) accumulates in cells and certain organs. (wikipedia.org)
  • Gaucher's disease is the most common of the lysosomal storage diseases. (wikipedia.org)
  • Neurological symptoms occur only in some types of Gaucher's (see below): Type I: impaired olfaction and cognition Type II: serious convulsions, hypertonia, intellectual disability, and apnea Type III: muscle twitches known as myoclonus, convulsions, dementia, and ocular muscle apraxia Parkinson's disease is recognized as being more common in Gaucher's disease patients and their heterozygous carrier relatives. (wikipedia.org)
  • Yellowish-brown skin pigmentation The three types of Gaucher's disease are autosomal recessive. (wikipedia.org)
  • Gaucher's disease, also known as glucocerebrosidase deficiency, is an autosomal recessive disease that affects about 1 in 20,000 live births. (medscape.com)
  • Although Gaucher's disease is pan-ethnic, type 1 is the most common inherited Jewish genetic disease. (medscape.com)
  • The US Food and Drug Administration (FDA) approved eliglustat in hard capsule format for adults with type 1 Gaucher's disease in August. (medscape.com)
  • In one, patients with Gaucher's disease treated for 9 months with eliglustat did much better than those treated for 9 months with placebo. (medscape.com)
  • Contribution of brain inflammation to neuronal cell death in neuronopathic forms of Gaucher's disease. (medscape.com)
  • Grabowski GA. Phenotype, diagnosis, and treatment of Gaucher's disease. (medscape.com)
  • Replacement therapy for inherited enzyme deficiency--macrophage-targeted glucocerebrosidase for Gaucher's disease. (medscape.com)
  • The genetic disease, Gaucher's disease, causes a disorder of the lipid metabolism. (tu-muenchen.de)
  • There exist three phenotypic expressions of the Gaucher's disease. (tu-muenchen.de)
  • The most common type of the Gaucher's disease has also the mildest illnes degree. (tu-muenchen.de)
  • The Type III of Gaucher's disease begins in childhood or adolescence. (tu-muenchen.de)
  • According to National Gaucher Foundation (USA) nearly 1 person in 20,000 has Gaucher's disease. (tu-muenchen.de)
  • Type II Gaucher's disease does not seem to be preferentially represented by a specific ethnic group. (tu-muenchen.de)
  • Type III Gaucher's disease occurs most frequently in the northern Swedish region of Norrbotten. (tu-muenchen.de)
  • Diagnosis of Gaucher's disease is possible. (tu-muenchen.de)
  • In a study of 159 patients with Gaucher's disease, researchers found that fewer patients treated with eliglustat (85%) than imiglucerase (94%) met criteria for hemoglobin level, platelet count, spleen volume, and liver volume indicating stable disease for 12 months. (medscape.com)
  • Gaucher's disease is one of the most common lysosomal storage disorders with defects in the enzyme glucosylceramidase (glucocerebrosidase). (ai-online.info)
  • To evaluate a patient with Gaucher's disease using the severity scoring index of Zimran et al. (medicalalgorithms.com)
  • It is for this reason that a patient suspected of having Gaucher's disease will likely have a positive diagnosis if other family members have previously diagnosed. (naturalcurefor.com)
  • RIPK3 as a potential therapeutic target for Gaucher's disease. (ox.ac.uk)
  • Gaucher's disease (GD), an inherited metabolic disorder caused by mutations in the glucocerebrosidase gene (GBA), is the most common lysosomal storage disease. (ox.ac.uk)
  • Imiglucerase treatment in Gaucher's disease" by Uzma Shah, Naila Nadeem et al. (aku.edu)
  • Gaucher's disease is an inherited lysosomal storage disorder with a deficiency of the enzyme glucocerbrosidase that manifests with clinical features of anemia, hepato-splenomegaly, skeletal destruction and organ dysfunction due to the accumulation of glucocerbrosides. (aku.edu)
  • There are several types of Gaucher's disease with varying prognosis and clinical progression of disease. (aku.edu)
  • 1. The serum of normal individuals and of patients with Gaucher's disease does not contain cerebrosides in measurable amounts. (ashpublications.org)
  • Cerebrosides in Gaucher's disease are increased only in those organs containing abundant numbers of cells characteristic of the disease. (ashpublications.org)
  • 3. Red blood cells in Gaucher's disease do not differ quantitatively and qualitatively in their cerebroside content from the red blood cells of normal individuals. (ashpublications.org)
  • 4. In four different cases of Gaucher's disease separate determinations of splenic galactosido- and glucosidocerebrosides were made. (ashpublications.org)
  • 5. The organs of infantile siblings with "generalized infantile Gaucher's" disease were analyzed. (ashpublications.org)
  • 6. The findings reported in this paper lend support to the theory that Gaucher's disease is the result of a deviation of the intracellular metabolism of reticulum cells and histiocytes. (ashpublications.org)
  • Roscoe Brady's research into Gaucher's disease answered all three questions. (nih.gov)
  • Gaucher's disease is a rare Lysosomal Storage Disorder (LSD) caused by the accumulation of glucosylceramide/glucocerebroside. (ejournals.ca)
  • This case study aims to evaluate Gaucher's disease in a 4-year-old child at Sanglah General Hospital, Bali, Indonesia. (ejournals.ca)
  • Gaucher's disease is a rare case and difficult to diagnose. (ejournals.ca)
  • 2. Essabar L, Meskini T, Lamalmi N, Ettair S, Erreimi N, Mouane N. Gaucher's disease: report of 11 cases with review of literature. (ejournals.ca)
  • Gaucher's disease and pregnancy. (ejournals.ca)
  • National Gaucher Foundation Inc. [Internet] [updated 2016]. (thinkgenetic.com)
  • In an effort to raise awareness - each time someone posts a photo wearing green shoelaces on the Steps Ahead of Gaucher web site during October, Genzyme Corporation will make a donation to the National Gaucher Foundation to support research for a cure and programmes to meet the needs of people affected by Gaucher disease. (huffingtonpost.co.uk)
  • The Gaucher-causing mutations may have entered the Ashkenazi Jewish gene pool in the early Middle Ages (48-55 generations ago). (wikipedia.org)
  • Mutations in the GBA1 gene, which encodes glucocerebrocidase (GCase), is the most prevalent risk factor for Parkinson's disease (PD). (michaeljfox.org)
  • Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. (medscape.com)
  • Hematologically important mutations: Gaucher disease. (medscape.com)
  • Patients with 1 copy of an N370S mutations plus another mutation almost certainly will have Gaucher disease type 1. (gaucherdiseaseplatform.org)
  • Gaucher disease is a rare, autosomal recessively inherited disorder caused by mutations of the GBA gene. (gaucherdiseaseplatform.org)
  • Heterozygous mutations in GBA are a major risk factor for Parkinson's disease. (ox.ac.uk)
  • In rare cases, a genetic test for Duchenne will be inconclusive, because not all mutations causing the disease have been firmly identified. (everydayhealth.com)
  • When zebrafish are given the same mutations that lead to Gaucher disease, they are less susceptible to infection by the bacterium that cause TB. (topsciencenews.com)
  • There are several hundred mutations that cause Gaucher disease, but they all result in a kind of fat building up within lysosomes. (topsciencenews.com)
  • The team gave the fish the commonest mutations that cause Gaucher disease in Ashkenazi Jews. (topsciencenews.com)
  • The variants that cause Gaucher disease in Ashkenazi Jews tend to lead to a milder form of the condition than some other mutations, supporting the idea that they could have been selected for because they reduced people's vulnerability to TB, she says. (topsciencenews.com)
  • There is good evidence of small population bottlenecks in the Middle Ages, but that does not exclude the possibility of [Gaucher mutations causing] some advantage in some circumstances. (topsciencenews.com)
  • 7. Beutler E, Demina A, Gelbart T. Glucocerebrosidase mutations in Gaucher disease. (ejournals.ca)
  • Patients with 2 copies of the N370S mutation may have a milder form of Gaucher disease than people with just one N370S copy plus another mutation. (gaucherdiseaseplatform.org)
  • This is the most common form of Gaucher disease. (relainstitute.com)
  • There are 3 types of Gaucher disease, which vary in epidemiology, enzyme activity, and manifestations. (msdmanuals.com)
  • GD types 2 and 3 are seen around the world, but are the most common types of Gaucher disease seen outside the United States, like in Taiwan, Japan, India and Egypt. (thinkgenetic.com)
  • There are three major types of Gaucher disease, depending on which tissues are most affected. (osmosis.org)
  • The company's mission is to use artificial intelligence solutions to help individuals living with genetic diseases - including Gaucher disease - receive accurate healthcare information that leads to a faster diagnosis. (gaucherdisease.org)
  • I knew at a young age there was something going on with me, and just before my 18th birthday, my sister was diagnosed and that led to my own Gaucher diagnosis a few months later. (avrobio.com)
  • Diagnosis of Gaucher disease is by DNA analysis and/or enzyme analysis of white blood cells. (msdmanuals.com)
  • However, they add, "the interval between diagnosis and initiation of ERT has decreased, most strikingly in pediatric patients who have the most severe disease. (medscape.com)
  • Those for whom the occurrence of the disease was sporadic, there may be some delay in the diagnosis because symptoms are protean and may vary as to which will manifest and to what extent. (naturalcurefor.com)
  • However, lack of awareness regarding the symptoms, diagnosis, and treatment of disease among rural population are anticipated to restrain growth of the global gaucher disease drugs market during the next decade. (meridianmarketconsultants.com)
  • Early diagnosis of Gaucher disease (GD) allows for disease-specific treatment before significant symptoms arise, preventing/delaying onset of complications. (biomedcentral.com)
  • It results from a lack of the enzyme glucocerebrosidase and exhibits very different clinical courses.Considering the wide variability in symptomatology, the 3rd edition of this text book facilitates initial diagnosis and provides clinical experience and valuable information on managing Gaucher disease.The aim of this book is to contribute to the early diagnosis and adequate treatment of as many Gaucher disease patients as possible. (scopewe.com)
  • Ten years previously, his brother died of a clinically similar disease without a confirmed diagnosis 9 days after YF vaccination. (cdc.gov)
  • According to recent research, as many as 14 percent of people with Gaucher disease wait seven years or more for their doctors to correctly identify the cause of their symptoms. (gaucherdisease.org)
  • Even on the standard of care, people with Gaucher disease have a shortened life expectancy 10 and may experience debilitating symptoms that significantly reduce their quality of life. (avrobio.com)
  • People with Gaucher disease do not make enough of the enzyme glucocerebrosidase (GCase). (raredisease.net)
  • SRTs partly block the body from making glucocerebroside, the fatty chemical that builds up in people with Gaucher disease. (raredisease.net)
  • People with Gaucher disease may need other treatments to manage the symptoms and complications of the condition. (raredisease.net)
  • Treatment focuses on allowing people with Gaucher disease to go about their daily lives without fatigue , joint pain, shortness of breath, or the dangers of osteoporosis. (raredisease.net)
  • However, with treatment, many people with Gaucher disease type 3 can live long and healthy lives. (relainstitute.com)
  • People with Gaucher disease don't have enough of an enzyme called glucocerebrosidase (GCase) GCase enzymes are proteins that help break down fats (sphingolipids) in the body. (relainstitute.com)
  • Some people with Gaucher disease have little or no symptoms. (relainstitute.com)
  • As fatty chemicals build up in the body, people with Gaucher disease may experience various symptoms in the blood and organs. (relainstitute.com)
  • Fatigue is common in people with Gaucher disease due to their anaemia. (relainstitute.com)
  • Low platelet counts cause people with Gaucher disease to bruise easily. (relainstitute.com)
  • Next, the healthcare provider uses a blood test to check for enzyme levels in people with Gaucher disease. (relainstitute.com)
  • The goal is to limit the fat buildup (GL1 substrates) to a level that can be effectively cleared by the naturally occurring enzyme (all living people with Gaucher disease have a little enzyme) with residual activity. (thinkgenetic.com)
  • Despite existing treatments, many people with Gaucher disease continue to experience symptoms and disease progression. (northerncarealliance.nhs.uk)
  • People with Gaucher disease deserve better treatment options. (northerncarealliance.nhs.uk)
  • The disease occurs when the lipid glucosylceramide accumulates in the bone marrow, lungs, spleen, liver, and sometimes the brain. (medscape.com)
  • If left untreated, it can enlarge the liver and spleen and cause anemia, thrombocytopenia, neurologic damage, and bone disease, among other manifestations. (medscape.com)
  • Even the hallmark signs of Gaucher disease, such as enlarged spleen (splenomegaly), can be caused by other issues like infections, metabolic disorders, or certain cancers. (gaucherdisease.org)
  • But in most cases, these physicians aren't trained to recognize certain symptoms, like enlarged spleen and nosebleeds, as subtle hints of Gaucher disease. (gaucherdisease.org)
  • Without this enzyme, Gaucher fat cells build up in the spleen, liver, and bone marrow. (raredisease.net)
  • Although biopsy is unnecessary, Gaucher cells-lipid-laden tissue macrophages in the liver, spleen, lymph nodes, bone marrow, or brain that have a wrinkled tissue-paper appearance-are diagnostic. (msdmanuals.com)
  • Gaucher disease (GD) is a rare genetic condition that affects the bones, liver, spleen, and other parts of the body. (thinkgenetic.com)
  • GD type 3 is an intermediate, chronic form of the disease which causes issues not only with the spleen, liver and bones but affects the brain. (thinkgenetic.com)
  • As a result of the disease, harmful substances build up in cells that then accumulate in various organs including the liver, spleen, bones and lungs. (northerncarealliance.nhs.uk)
  • The researchers point out that, "In each age group there was a highly significant excess of key manifestations of bone disease (bone crisis, ischemic bone events, and bone pain) in splenectomized patients compared to patients with intact spleen. (medscape.com)
  • GD is a genetic disease that leads to the accumulation of lipids within the cells and can affect some organs more than others, in particular the spleen. (hematologyadvisor.com)
  • The spleen of two adults showed mainly glucosidocerebrosides and only traces of galactosidocerebrosides, while the analysis of the spleen of two other adults showed that galactosido- as well as glucosidocerebrosides may be accumulated simultaneously in Gaucher cells. (ashpublications.org)
  • Niemann-Pick disease is a group of autosomal recessive disorders caused by an accumulation of fat and cholesterol in cells of the liver, spleen, bone marrow, lungs, and, in some instances, brain. (nih.gov)
  • There is no cure for Gaucher disease but there are treatments for symptoms of type 1 and the non-neurological symptoms of type 3. (raredisease.net)
  • There is no cure for Gaucher disease, but treatment can improve the quality of life. (relainstitute.com)
  • Moreover, the strategic collaboration between European Medicines Agency (EMA) and the United States Food and Drug Administration (FDA) to promote the innovative approach to develop the cure for Gaucher disease is also benefitting the market growth. (meridianmarketconsultants.com)
  • Many early signs and symptoms of Gaucher disease mimic those found in other illnesses and health conditions. (gaucherdisease.org)
  • As a result, health care providers may not take the signs and symptoms of Gaucher disease seriously at first. (gaucherdisease.org)
  • Although ERT and SRT have been shown to improve some of the symptoms of Gaucher disease affecting the body, neither of these treatments impact the neurologic symptoms of Gaucher disease. (avrobio.com)
  • Currently, there is drug therapy for Gaucher disease. (naturalcurefor.com)
  • Enzyme replacement and substrate reduction therapy for Gaucher disease. (ejournals.ca)
  • Join us for the premiere online, hosted live by Adam Rose, fellow Gaucher patient, actor and TikTok star, and featuring Gaucher patients from around the world. (lysosomaldiseasenetwork.org)
  • A new pharmaceutical podcast putting health heroes in the spotlight debuts in the runup to Rare Diseases Day 2020 with an instalment focusing on Gaucher disease. (pharmaphorum.com)
  • Symptoms and signs of type II Gaucher disease are progressive neurologic deterioration (eg, rigidity, seizures) and death by age 2 years. (msdmanuals.com)
  • Type II Gaucher disease occurs in 1 out of 100,000 live births manifests after 6 months of age. (naturalcurefor.com)
  • It is a form of sphingolipidosis (a subgroup of lysosomal storage diseases), as it involves dysfunctional metabolism of sphingolipids. (wikipedia.org)
  • Beutler E. Lysosomal storage diseases: natural history and ethical and economic aspects. (medscape.com)
  • Today, this is the most common lysosomal storage diseases, resulting in deficiency in glucocerebrosidase. (naturalcurefor.com)
  • Disorders in which intracellular material that cannot be metabolized is stored in lysosomes are called lysosomal storage diseases. (nih.gov)
  • The macrophages that clear these cells are unable to eliminate the waste product, which accumulates in fibrils, and turn into 'Gaucher cells', which appear on light microscopy to resemble crumpled-up paper. (wikipedia.org)
  • The glycolipid storage gives rise to the characteristic Gaucher cells, macrophages engorged with lipid with a crumpled-tissue-paper appearance and displaced nuclei. (medscape.com)
  • Genetic defects of the enzyme cause glucocerebroside accumulation in tissue macrophages through phagocytosis, forming Gaucher cells. (msdmanuals.com)
  • While the reason is unclear, Gaucher cells and other nearby macrophages secrete damaging lysosomal enzymes and inflammatory signals into the surrounding area. (osmosis.org)
  • The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. (umassmed.edu)
  • The bone disease is progressive with spine and chest deformities. (lysosomalcenter.org)
  • Her competitive spirit, cheery but no-nonsense attitude, and supportive family help her through her toughest days with Gaucher disease, which can bring fatigue and often debilitating bone pain. (avrobio.com)
  • Progressive infiltration of Gaucher cells in the bone marrow may lead to thinning of the cortex, pathologic fractures, bone pain, bony infarcts, and osteopenia. (medscape.com)
  • In type 1 Gaucher disease, bone marrow cells are the most affected, which can lead to bone marrow fibrosis and anemia, and hepatosplenomegaly. (osmosis.org)
  • it resulted in accelerated disease in bone and in other organs as well as life-threatening complications such as pulmonary hypertension. (medscape.com)
  • Put in a nutshell, Gaucher is a bad recipe that can result in bone pain and severe fatigue to life-threatening complications. (huffingtonpost.co.uk)
  • All forms of Gaucher disease are autosomal recessively inherited. (medscape.com)
  • The factors that contribute to neurologic involvement in patients with types 2 and 3 disease are still unknown but may be related to the accumulation of a cytotoxic glycolipid, glucosylsphingosine, in the brain due to the severe deficiency of glucocerebrosidase activity or to neuroinflammation. (medscape.com)
  • Gaucher disease stems from an enzyme deficiency that prevents the breakdown of certain fats in the body. (blogspot.com)
  • Gaucher disorder is an inherited disorder that results from the deficiency of an enzyme responsible for breaking down a fatty substance within the organelles of cells, called lysosomes. (lysosomalcenter.org)
  • Gaucher disease is a rare genetic disorder resulting from a deficiency of the enzyme glucocerebrosidase, also known as GCase. (avrobio.com)
  • Gaucher disease is caused by a deficiency of a particular enzyme (glucocerebrosidase). (huffingtonpost.co.uk)
  • Niemann-Pick disease type C is not caused by a deficiency of sphlingomyelinase but by a lack of the NPC1 or NPC2 proteins. (nih.gov)
  • The disease is caused by a recessive mutation in the GBA gene located on chromosome 1 and affects both males and females. (wikipedia.org)
  • Gaucher disease (GD) is an autosomal recessive disorder caused by a mutation in the beta-glucocerebrosidase ( GBA ) gene. (bmj.com)
  • Parkinson disease: This is more common in patients with Gaucher disease and GBA1 mutation carriers. (medscape.com)
  • Subjects with Parkinson disease are more than 5 times more likely to have a mutation in the glucocerebrosidase gene. (medscape.com)
  • Hruska KS, LaMarca ME, Scott CR, Sidransky E. Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). (medscape.com)
  • The cause of Gaucher disease is a recessive mutation in a houskeeping gene lysosomal glucocerebrosidase (beta-glucosidase, glucosylceramidase) on chromosome 1 (1q21). (tu-muenchen.de)
  • Having 2 copies of the L444P mutation causes neurological symptoms and is related to Gaucher disease types 2 and 3. (gaucherdiseaseplatform.org)
  • Gaucher disease is caused by a change (mutation) in the GBA gene. (raredisease.net)
  • Both parents have to carry and pass on the mutation for their baby to develop Gaucher disease. (raredisease.net)
  • In Gaucher disease , the GBA gene is faulty, meaning it has a mutation that leads to a reduction in the level or activity of glucocerebrosidase. (osmosis.org)
  • Gaucher disease is caused by a mutation in the GBA1 gene that results in abnormally low levels of glucocerebrosidase (GCase), an enzyme needed to metabolize a certain type of lipid. (northerncarealliance.nhs.uk)
  • The disease is named after the French physician Philippe Gaucher, who originally described it in 1882. (wikipedia.org)
  • It's named for the French physician, Philippe Gaucher , who first described the condition. (osmosis.org)
  • Gaucher disease was first described in 1882 by Philippe Gaucher. (naturalcurefor.com)
  • In Gaucher disease, the enzyme is unable to function correctly and glucocerebroside accumulates. (wikipedia.org)
  • Gaucher disease is a rare genetic disorder characterized by the deposition of glucocerebroside in cells of the macrophage-monocyte system. (medscape.com)
  • Gaucher disease (GD) is a rare, inherited disorder that affects the body 's ability to break down glucocerebroside molecules, because there is a lack of an enzyme called glucocerebrosidase that normally breaks down this molecule. (osmosis.org)
  • 6. Ilan Y, Elstein D, Zimran A. Glucocerebroside: an evolutionary advantage for patients with Gaucher disease and a new immunomodulatory agent. (ejournals.ca)
  • Considerable clinical variability occurs in adult Gaucher disease type I and three main subtypes may be delineated: a very mild form, a severe form, and a moderate form which itself presents various clinical manifestations. (bmj.com)
  • A study based on 25 families from our clinic and a review of published reports showed that when both parents were heterozygous and more than one child was affected with Gaucher disease type I, there was always intrafamilial similarity concerning the three subtypes. (bmj.com)
  • We propose that the three different clinical subtypes of this disease reflect the genetic heterogeneity of two alleles, G1a and G1b and the three corresponding genotypes represent the three different subtypes of the disease. (bmj.com)
  • There are three subtypes of Gaucher disease. (avrobio.com)
  • as its clinical manifestations may mimic lymphoma or other haematological diseases. (gaucherdiseaseplatform.org)
  • The study reveals diverse and changing phenotypic manifestations with systemic, skeletal and neurological disease as inter-related sources of disability. (ox.ac.uk)
  • Type 1 GD was the first lysosomal storage disease (LSD) for which enzyme therapy became available, and although infusions of recombinant glucocerebrosidase (GCase) ameliorate the systemic effects of GD, the lack of efficacy for the neurological manifestations, along with the considerable expense and inconvenience of enzyme therapy for patients, renders the search for alternative or complementary therapies paramount. (ox.ac.uk)
  • Gaucher disease is the most common lipid storage disorder. (scopewe.com)
  • Lipid storage diseases (also known as lipidoses) are a group of inherited metabolic disorders in which harmful amounts of fatty materials (lipids) accumulate in various cells and tissues in the body. (nih.gov)
  • SRTs are not to be used in children and teenagers, people who are pregnant or breastfeeding, many people 65 and older, and people with severe kidney or liver disease. (raredisease.net)
  • The disease is caused by a defect in the housekeeping gene for lysosomal glucocerebrosidase (also known as beta-glucosidase, EC 3.2.1.45, PDB: 1OGS​) on the first chromosome (1q22). (wikipedia.org)
  • Type 2 (acute infantile neuropathic Gaucher disease) is rare and causes severe, irreversible brain damage quickly. (raredisease.net)
  • GD type 2 is the most severe and acute life-threatening form of the disease with health issues usually beginning before birth. (thinkgenetic.com)
  • Type 2 (acute infantile neuropathic Gaucher disease) typically begins within three months of birth. (nih.gov)
  • The enzyme Imiglucerase (Cerezyme, Genzyme) has been used to treat Type 1 Gaucher disease while the neuronopathic type has been resistant to therapy. (aku.edu)
  • Through this sphingolipidosis (lysosomal storage disease) there can be found a accumulation of sphingolipids in cells, that leads to a morbid impact on the body. (tu-muenchen.de)
  • Through this sphingolipidosis (lysosomal storage disease) there can be found a accumulation of sphingolipids in cells. (tu-muenchen.de)
  • Accumulation of Gaucher cells in the perivascular spaces in the brain causes gliosis in the neuronopathic forms. (msdmanuals.com)
  • ERT sometimes is started in patients with type 2 GD, as often there can be a question regarding disease type and progression, and to delay may have significant impact on patient outcomes. (medscape.com)
  • Conclusions Establishing a population-based cohort of patients with GD is essential to understanding disease progression and management. (bmj.com)
  • They hope that the one-off treatment could stop disease progression, improve outcomes, and free people from lifelong treatment. (northerncarealliance.nhs.uk)
  • GD is a heterogeneous disease, and each patient is unique regarding age of onset and range of symptoms, rate of disease progression, and comorbidities. (biomedcentral.com)
  • Using organoid technologies I can develop specific brain regions from patient stem cells to investigate disease progression over time. (lu.se)
  • It is characterized by slowly progressive yet milder neurologic symptoms compared to type 2 Gaucher disease. (nih.gov)
  • The Lysosomal Disease Network (U54NS065768) is a part of the National Institutes of Health (NIH) Rare Diseases Clinical Research Network (RDCRN), supported through collaboration between the NIH Office of Rare Diseases Research (ORDR) at the National Center for Advancing Translational Science (NCATS), the National Institute of Neurological Disorders and Stroke (NINDS) and National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). (lysosomaldiseasenetwork.org)
  • Intensive phenotyping in a subgroup of 40 patients originally considered to have only systemic features, revealed neurological involvement in 18: two had Parkinson disease and 16 had clinical signs compatible with neuronopathic Gaucher disease-indicating a greater than expected prevalence of neurological features. (ox.ac.uk)
  • Here, we show that modulating the receptor-interacting protein kinase-3 (Ripk3) pathway markedly improves neurological and systemic disease in a mouse model of GD. (ox.ac.uk)
  • G aucher's disease (GD) is a rare lysosomal storage disease characterised by visceromegalies, growth retardation and skeletal and neurological abnormalities. (fundacionareces.es)
  • 9. Alaei MR, Tabrizi A, Jafari N, Mozafari H. Gaucher Disease: New Expanded Classification Emphasizing Neurological Features. (ejournals.ca)
  • some patients present in childhood with virtually all the complications of Gaucher disease, whereas others remain asymptomatic into the eighth decade of life. (medscape.com)
  • Many questions remain for interrogation (incidence of complications beyond skeleton, including at-risk cancers) but the enigmatic pathogenesis of the disease remains mysterious and ripe for continuing study," added Dr. Cox, who was not involved in the study. (medscape.com)
  • Gaucher disease: haematological presentations and complications. (ejournals.ca)
  • It's possible to be matched to more than one genetic disease possibility, depending on your symptoms. (gaucherdisease.org)
  • WASHINGTON (Reuters) - U.S. drug regulators gave the nod on Tuesday to Protalix Biotherapeutics Inc and Pfizer Inc's experimental biotech drug for a form of the rare genetic disease Gaucher. (blogspot.com)
  • Gaucher Disease (GD) is a rare, inherited, autosomal recessive genetic disease affecting around 1 in 50,000 to 1 in 100,000 people in the general population. (gaucherdiseaseplatform.org)
  • Duchenne muscular dystrophy, a condition that affects mostly boys and men, is a genetic disease that causes loss of muscle over time. (everydayhealth.com)
  • Ashkenazi Jews, who make up about 8 in 10 of all Jewish people, have a higher than average rate of Gaucher disease, which has symptoms ranging from pain and tiredness to enlarged livers and spleens. (topsciencenews.com)
  • As a result, people living with Gaucher disease often undergo unnecessary diagnostic procedures and potentially harmful treatments aimed at other illnesses and ailments. (gaucherdisease.org)
  • What are the symptom-based treatments for Gaucher disease? (thinkgenetic.com)
  • FDA Clears Eliglustat (Cerdelga) for Gaucher Disease. (medscape.com)
  • Type 3 (chronic neuropathic Gaucher disease) is rare in the United States and Europe but is the most common form globally. (raredisease.net)
  • None had a history of heart disease, previous substrate reduction therapy, or splenectomy. (medscape.com)
  • Substrate reduction therapy (SRT) is an alternative treatment for appropriate adult patients with type 1 Gaucher disease. (medscape.com)
  • Substrate reduction therapy, or SRT, is also available for patients with Gaucher disease type 1. (avrobio.com)
  • US and European regulators want to promote the development of drugs for paediatric Gaucher disease, moves which could also apply to other rare diseases in children. (pharmaphorum.com)
  • purchased by Sanofi last year for a huge amount and they also create drugs that treat other rare diseases. (blogspot.com)
  • Rare diseases affect about 30 million Americans - roughly the same number as those with type 2 diabetes. (gaucherdiseasenews.com)
  • 1. Marques ARA, Saftig P. Lysosomal storage disorders - challenges, concepts and avenues for therapy: beyond rare diseases. (ejournals.ca)
  • Beyond formal educational and outreach programs aimed at increasing awareness of rare genetic diseases like Gaucher disease, new technologies are helping fill the knowledge gaps that exist for both patients and healthcare providers. (gaucherdisease.org)
  • The Gaucher Community Alliance is premiering its new video campaign to raise awareness about Gaucher disease during October's Gaucher Awareness Month. (lysosomaldiseasenetwork.org)
  • Through my writing and public speaking I hope to bring greater awareness to the general public about living with chronic disease. (blogspot.com)
  • October is Gaucher Awareness Month so join me by wearing green shoelaces as a symbolic gesture. (huffingtonpost.co.uk)
  • For instance, the launch of Gaucher Awareness day, by European Gaucher Alliance, to educate their citizens about this rare and curable disease. (meridianmarketconsultants.com)
  • a 5-fold risk to develop Parkinson's disease, which is the highest known risk-factor. (tu-muenchen.de)
  • They are also studying a protein that builds up in Gaucher disease, Parkinson's disease, and Lewy body dementia. (raredisease.net)
  • I was interviewed by Michael and introduced myself, expressing an interest in future webcasts, with the possibility of focusing one segment on the connection between Gaucher and Parkinson's disease. (huffingtonpost.co.uk)
  • Gaucher disease causes osteoporosis, which occurs when the bones don't get enough calcium. (relainstitute.com)
  • Patients with type 1 disease commonly present with painless splenomegaly, anemia, or thrombocytopenia. (medscape.com)
  • In families where one parent and at least one child were affected, variability in the clinical subtype of Gaucher disease type I might occur among the affected members of the family. (bmj.com)
  • Imaging and clinical notes were not available in the EHR, thus limiting the ability to evaluate treatment needs and track disease management. (bmj.com)
  • In-depth phenotyping for clinical stratification of Gaucher disease. (ox.ac.uk)
  • BACKGROUND: The Gaucher Investigative Therapy Evaluation is a national clinical cohort of 250 patients aged 5-87 years with Gaucher disease in the United Kingdom-an ultra-rare genetic disorder. (ox.ac.uk)
  • To inform clinical decision-making and improve pathophysiological understanding, we characterized the course of Gaucher disease and explored the influence of costly innovative medication and other interventions. (ox.ac.uk)
  • However, the strategic collaborations among key players to optimize and develop the drug holds numerous products in pipeline, including LB-201 and LB-205 (by Lixte Biotechnology Holdings Inc.), JR-101 (by JCR Pharmaceuticals Co. Ltd.), A Phase II clinical trial of arimoclomol for Gaucher disease (by Orphazyme ApS), etc. (meridianmarketconsultants.com)
  • Clinical and public health methods and strategies are needed for communicating disease risk to family members and providing equitable access to cascade testing in all segments of the population, including racial and ethnic minority groups, rural communities, and people with lower incomes. (cdc.gov)
  • Gaucher Clinical Perspectives, 5 , 7-10. (bvsalud.org)
  • An evidence-based review of the potential benefits of taliglucerase alfa in the treatment of patients with Gaucher disease. (medscape.com)
  • No specific treatment for Type 2 Gaucher disease is available. (gaucherdiseaseplatform.org)
  • There is no treatment for the brain damage caused by Gaucher disease types 2 and 3. (raredisease.net)
  • Miglustat is indicated for the oral treatment of adult patients with mild to moderate type 1 Gaucher disease. (rxreasoner.com)
  • The recommended starting dose for the treatment of adult patients with type 1 Gaucher disease is 100 mg three times a day. (rxreasoner.com)
  • Current treatment algorithms and third party (payer) guidelines largely presuppose that patients will have advanced disease," the team writes. (medscape.com)
  • Alternative medicine, therapies and treatment options are providing some excellent results for many diseases. (naturalcurefor.com)
  • Increasing demand for adequate treatment, rising incidence of the disease, and the efforts for identification of Gaucher diseased patients favors the market growth. (meridianmarketconsultants.com)
  • Evaluation of the Nutritional Status of Gaucher Disease Type I Patients under Enzyme Replacement Treatment. (bvsalud.org)
  • Its results warrant confirmation in even larger GD population samples and a more in-depth investigation of the long-term effects of treatment superimposed on the basic pathophysiological disease condition. (bvsalud.org)
  • The cells are then known as Gaucher cells and these cells can accumulate within various tissues of the body, leading to the variety of signs and symptoms which can present. (gaucherdiseaseplatform.org)
  • It works by using a virus - which has been modified to remove its ability to cause infectious disease - as a vehicle to carry therapeutic genes into human cells. (northerncarealliance.nhs.uk)
  • These findings are of importance, since it is demonstrated that the deviation of the cerebroside metabolism in Gaucher cells not only results in the formation of an abnormal glucosidocerebroside, but also may lead to the increased formation of the normal galactosidocerebroside, kerasin. (ashpublications.org)
  • It is demonstrated that the relative proportions of galactosido- and glucosidocerebrosides in Gaucher cells may differ considerably in individual cases. (ashpublications.org)