Fabry disease; A lysosomal storage disease causing anhidrosis, fatigue, angiokeratomas, burning extremity pain and ocular ... Charcot-Marie-Tooth disease (CMTX2-3); disorder of nerves (neuropathy) that is characterized by loss of muscle tissue and touch ... It was once thought to be the "royal disease" found in the descendants of Queen Victoria. This is now known to have been ... Theoretically, a mutation in any of the genes on chromosome X may cause disease, but below are some notable ones, with short ...
Schaefer E, Mehta A, Gal A (2005). "Genotype and phenotype in Fabry disease: analysis of the Fabry Outcome Survey". Acta ... Koide T, Ishiura M, Iwai K, Inoue M, Kaneda Y, Okada Y, Uchida T (1990). "A case of Fabry's disease in a patient with no alpha- ... Levin M (2006). "Fabry disease". Drugs of Today. 42 (1): 65-70. doi:10.1358/dot.2006.42.1.957357. PMID 16511611. Lidove O, Joly ... A variety of mutations in this gene affect the synthesis, processing, and stability of this enzyme, which causes Fabry disease ...
Fabry disease, characterized by excess globotriaosylceramide (GL3), causes a decrease in sweat gland function due to GL3 ... Niemann-Pick disease type C, another lipid storage disease, includes abnormal lipid storage in sweat glands. Schindler disease ... Elstein, Deborah (1 January 2010). Fabry Disease. Springer. pp. 84, 358. ISBN 9789048190331. Drut, Ricardo (1978). "Eccrine ... Kearns-Sayre syndrome, a disease of the mitochondria, involves abnormal mitochondria in eccrine sweat glands. Lafora disease is ...
Kint, J. A. (1970-02-27). "Fabry's Disease: Alpha-Galactosidase Deficiency". Science. 167 (3922): 1268-1269. doi:10.1126/ ... Lack of alpha-galactosidase activity in leukocytes has been linked to Fabry Disease. Galactosidases have a variety of uses, ...
Caillaud C, Poenaru L (2002). "[Gaucher's and Fabry's diseases: biochemical and genetic aspects]". Journal De La Société De ... Mutations in the glucocerebrosidase gene cause Gaucher's disease, a lysosomal storage disease characterized by an accumulation ... GeneReviews/NCBI/UW/NIH entry on Gaucher disease Glucocerebrosidase at the US National Library of Medicine Medical Subject ... Deegan PB, Cox TM (2012). "Imiglucerase in the treatment of Gaucher disease: a history and perspective". Drug Design, ...
They have a variety of functions; failure to degrade these molecules leads to Fabry disease. Glycophosphosphingolipids: complex ... One notable example is Niemann-Pick disease which can cause pain and damage to neural networks, and is usually fatal in early ... Sphingolipidoses are a group of diseases that are associated with the accumulation of sphingolipids which have not been ... Role of ganglioside metabolism in the pathogenesis of Alzheimer's disease - a review-JOURNAL OF LIPID RESEARCH Volume: 49 Issue ...
Brady and his colleagues identified the enzymatic defects in Gaucher's disease, Niemann-Pick disease, Fabry disease and the ... and effective enzyme replacement therapy for patients with Gaucher disease and Fabry disease. These were the first-ever enzyme ... Fabry's disease: antenatal detection. Science 1971; 172: 174-175. Epstein CJ, Brady RO, Schneider EL, Bradley RM, Shapiro D. In ... Brady RO, Gal AE, Bradley RM, Martensson E, Warshaw AL, Laster L. Enzymatic defect in Fabry's disease. Ceramidetrihexosidase ...
His translational research has led to the development of enzyme replacement therapy for Fabry disease and Niemann-Pick disease ... doi:10.1002/humu.20524 PMID 17464953 Desnick, R.J: Prenatal diagnosis of Fabry disease Prenat. Diag. 27:693-694, 2007. doi: ... Robert J. Desnick on the treatment of Fabry disease. New York Daily News, December 31, 2008.. ... Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset mutation, IVS4+919G>A. Hum. Mutat., ...
Migalastat is a pharmacological chaperone for the treatment of Fabry disease. In 2013, mice with a disease that makes the males ... Diseases that may be susceptible to such treatments include diabetes, inherited cataracts and cystic fibrosis. ... Enzyme replacement therapy "Drugs to fix "misfolded" proteins could cure a range of diseases". Gizmag.com. Retrieved 2013-12-10 ... Since mutations often cause disease by causing misfolding and misrouting, pharmacoperones are potentially therapeutic agents, ...
Fabry disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic & molecular bases of inherited disease. 8th ed. ... Defects in the enzyme alpha-galactosidase lead to the buildup of globotriaosylceramide, causing Fabry's disease. The ... in the diagnosis and follow-up of the efficacy of treatment of Fabry disease: a review of the literature". Cardiovasc Hematol ... pharmaceutical drug migalastat enhances the function of alpha-galactosidase and is used to treat Fabry's. Globotriaosylceramide ...
It is seen in Fabry disease or in case of prolonged amiodarone intake. No ocular complaints or visual difficulty is usually ... "Cornea verticillata supports a diagnosis of Fabry disease in non-classical phenotypes: results from the Dutch cohort and a ...
Miliaria Exercise-induced anaphylaxis Idiopathic pure sudomotor failure Hypohidrosis Fabry disease Nakamizo, S.; Egawa, G.; ...
Fabry disease is a genetic disorder caused by various mutations of the enzyme α-GalA, which is responsible for breaking down ... In 2004, it was designated orphan drug status by the US FDA for the treatment of Fabry disease, and in 2006 the European CHMP ... Migalastat is used for the long-term treatment of Fabry disease in adults and adolescents aged 16 or older with an amenable ... "Amicus Therapeutics Announces European Commission Approval for Galafold (Migalastat) in Patients with Fabry Disease in European ...
The goal of the study is to show that Fabry disease has to be considered to be one of the most frequent genetic causes of ... "Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study", The Lancet, Vol 366, 2005 Spada et al. " ... However, recent investigations have shown that Fabry disease can occur in 1 of 83 stroke patients aged 18-55 and between 1 of ... "High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening", The American Journal of Human Genetics, Vol 79, ...
In patients suffering from Anderson-Fabry disease, there is evidence to suggest that CFR can be reduced. When coronary flow ... Dimitrow, PP; Krzanowski, M; Undas, A (2005). "Reduced coronary flow reserve in Anderson-Fabry disease measured by ... flow reserve is used in diagnostics and treatment of patients suffering from conditions such as coronary artery disease and ... coronary sinus Doppler measurements in patients with syndrome X and patients with significant left coronary artery disease". ...
It will be tested as enzyme replacement therapy in the treatment of Fabry's disease. The clinical trial phase 1 was completed ... Defects in the corresponding gene are associated with human diseases such as severe kidney and retinal disorders. Biologically ...
Other causes may include Fabry disease, Friedreich's ataxia, and certain medications such as tacrolimus. It is type of ... Feline hypertrophic cardiomyopathy (HCM) is the most common heart disease in domestic cats; the disease process and genetics ... and many of those carrying disease genes for HCM do not have clinically detectable disease. The symptoms and signs of HCM ... The age at disease onset of HCM with MYH7 is earlier and leads to a more severe symptoms. A diagnosis of hypertrophic ...
This gene is thought to be involved in Fabry disease and X-linked agammaglobulinemia phenotype. Alternative splicing results in ...
... gene transfer in Parkinson's and Fabry disease models in vitro". Journal of medical virology. 71 (2): 173-182. doi:10.1002/jmv. ... A 2001 Medscape column named Major as a leading expert in white matter brain disease. PubMed U.S. National Library of Medicine ... Ask the Experts: Differential Diagnosis of White-Matter Brain Disease Medscape, David M. Simpson, MD, September 25, 2001.. ... and related monoclonal antibody-based therapies increase the risk of a rare brain disease caused by JC virus. ...
Amicus sells a regulatory agency approved pharmacologic chaperone for Fabry disease-a lysosomal storage disease. The principle ... Huntington's disease, Alzheimer's disease, lysosomal storage disorders, and others. Small animal model systems have been and ... Metabolic disease, such as that associated with obesity, alters the ability of cellular proteostasis networks adapt to stress, ... Disease develops when these mutations render a protein significantly more susceptible to misfolding, aggregation, and ...
Fabry disease Angiokeratoma of Mibelli List of cutaneous conditions Trickett R, Dowd H (October 2006). "Angiokeratoma of the ... Angiokeratoma corporis diffusum refers to Fabry's disease, but this is usually considered a distinct condition. Presentation ... The disease is named after Italian dermatologist Vittorio Mibelli (1860-1910). Angiokeratoma of Fordyce (also known as " ... ISBN 1-4160-2999-0. James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology ...
In man, the deficiency of this enzyme is the cause of Fabry's disease (X-linked sphingolipidosis). Alpha-galactosidase is ... In man, the deficiency of this enzyme is the cause of Schindler and Kanzaki diseases. The sequence of this enzyme is highly ...
The Institute conducts research into rare congenital metabolic illnesses such as Fabry's disease and Gaucher's disease. It ... "Stroke In Young Fabry Patients". University of Rostock. 2011. Archived from the original on 19 July 2011. Retrieved 13 August ... study dedicated to investigating the correlation of juvenile stroke and a genetic disorder known as Fabry's disease. The ...
ERT is currently available for some lysosomal storage diseases: Gaucher disease, Fabry disease, MPS I, MPS II (Hunter syndrome ... Lysosomal storage diseases are fatal group of diseases and a main application of ERT. Lysosomes are cellular organelles that ... Fabry Disease: Perspectives from 5 Years of FOS. Oxford: Oxford PharmaGenesis. ISBN 978-1-903539-03-3. PMID 21290685. Poznansky ... ERT is not a cure for lysosomal storage diseases, and it requires lifelong IV infusions of the therapeutic enzyme. This ...
Examples include Gaucher disease, Fabry disease, Mucopolysaccharidoses and Glycogen storage disease type II. Such treatments ... Some diseases, such as many common cancers, appear not to be well described by the common disease/common variant model. Another ... Sometimes the link between a disease and an unusual gene variant is more subtle. The genetic architecture of common diseases is ... Genetic variants associated with Alzheimer disease, deep venous thrombosis, Crohn disease, and type 2 diabetes appear to adhere ...
Gex-Fabry, M; Balant-Gorgia, AE; Balant, LP (February 1995). "Potential of concentration monitoring data for a short half-life ... Heinonen EH, Myllylä V (July 1998). "Safety of selegiline (deprenyl) in the treatment of Parkinson's disease". Drug Saf. 19 (1 ... Reversible MAOIs such as moclobemide may have advantages in the treatment of depression associated with Alzheimer's disease due ... Tikal K, Hrabánková M (June 1993). "[Indications for antidepressive agents in relation to diseases of the cardiovascular system ...