Gaucher disease and other storage disorders
نویسندگان
چکیده
منابع مشابه
Gaucher disease and other storage disorders.
In 1882, Philippe Gaucher described a 32-year-old woman with massive splenomegaly and unusually large cells in the spleen, which he called a "primary epithelioma of the spleen." The systemic nature and inheritance of the disease and its variants involving the viscera and CNS were described over the next century. The delineation of the causal enzymatic defects, genetics, molecular pathology, and...
متن کاملMetabolic Disorders Gaucher Disease
Touch MEDical MEDia 15 Abstract Gaucher disease, which is caused by an inherited glucocerebrosidase deficiency, is the most prevalent lysosomal storage disease worldwide. Estimated prevalence of Gaucher disease is 1:50,000 in most countries and the disease has its highest incidence in the Ashkenazi Jewish population. Type 1 (non-neuropathic) Gaucher disease is by far the most common form. Gauch...
متن کاملAnderson-Fabry disease and other lysosomal storage disorders.
Anderson-Fabry Disease and Other Lysosomal Storage Disorders Print ISSN: 0009-7322. Online ISSN: 1524-4539 Copyright © 2014 American Heart Association, Inc. All rights reserved. is published by the American Heart Association, 7272 Greenville Avenue, Dallas, TX 75231 Circulation doi: 10.1161/CIRCULATIONAHA.114.009789 2014;130:1081-1090 Circulation. http://circ.ahajournals.org/content/130/13/1081...
متن کاملBiomarkers for lysosomal storage disorders: identification and application as exemplified by chitotriosidase in Gaucher disease.
UNLABELLED A biomarker is an analyte that indicates the presence of a biological process linked to the clinical manifestations and outcome of a particular disease. An ideal biomarker provides indirect but ongoing determinations of disease activity. In the case of lysosomal storage disorders (LSDs), metabolites or proteins specifically secreted by storage cells are good candidates for biomarkers...
متن کاملOcular Features of Treatable Lysosomal Storage Disorders— Fabry Disease, Mucopolysaccharidoses I, II, and VI, and Gaucher Disease
Lysosomal storage disorders (LSDs) are a group of more than 50 inheritable disorders. Although individually rare, they collectively affect approximately one in 5,000 live births. Defective metabolism of proteins, carbohydrates, or lipids resulting from deficiency of one of the many lysosomal enzymes leads to pathological accumulation of substances within the lysosomes. This lysosomal accumulati...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Hematology
سال: 2012
ISSN: 1520-4391,1520-4383
DOI: 10.1182/asheducation.v2012.1.13.3797921