Clinical utility gene card for: Cystinosis
نویسندگان
چکیده
منابع مشابه
Clinical utility of chitotriosidase enzyme activity in nephropathic cystinosis
BACKGROUND Nephropathic cystinosis is an inherited autosomal recessive lysosomal storage disorder characterized by the pathological accumulation and crystallization of cystine inside different cell types. WBC cystine determination forms the basis for the diagnosis and therapeutic monitoring with the cystine depleting drug (cysteamine). The chitotriosidase enzyme is a human chitinase, produced b...
متن کاملClinical conference; cystinosis.
DR. KRETCHMER: For many years pediatri cians have known a group of inherited diseases associated with specific biochemical defects. Actually, these diseases were first compiled and demonstrated by Sir Archibald Garrod ap proximately 50 years ago. The case we would like to present, one of cystinosis or cystine storage disease, is an example of one of the so called inborn errors of metabolism. Pa...
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Alzheimer's disease (AD) is the largest cause of dementia, affecting 35.6 million people in 2010. Amyloid precursor protein, presenilin 1 and presenilin 2 mutations are known to cause familial early-onset AD, whereas apolipoprotein E (APOE) ε4 is a susceptibility gene for late-onset AD. The genes for phosphatidylinositol-binding clathrin assembly protein, clusterin and complement receptor 1 hav...
متن کاملInvited Comment Cystinosis: from gene to disease
Lysosomes are intracellular sacs of enzymes that are responsible for the digestion of macromolecules. The products of the hydrolytic digestion process then leave the lysosome via specific transporters in its membrane, to be either reused by the cell or excreted outwards. The general consensus about cystinosis has been that it is an inherited multi-systemic disease resulting from failure of lyso...
متن کاملThe History of Cystinosis: Lessons for Clinical Management
Cystinosis is a rare disorder, and, accordingly, progress on the understanding and treatment of this disease has been relatively slow. Although cystinosis was identified over 100 years ago, the history of cystinosis is marked by a few sudden leaps forward in our understanding rather than by a sustained research effort fuelled by the larger research community. Major conceptual break-throughs inc...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2013
ISSN: 1018-4813,1476-5438
DOI: 10.1038/ejhg.2013.204