Lysosomal Storage Disorders and Parkinson's Disease: New Susceptibility Loci Identified
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منابع مشابه
Lysosomal Storage Disorders and Malignancy
Lysosomal storage disorders (LSDs) are infrequent to rare conditions caused by mutations that lead to a disruption in the usual sequential degradation of macromolecules or their transit within the cell. Gaucher disease (GD), a lipidosis, is among the most common LSD, with an estimated incidence of 1 in 40,000 among the Caucasian, non-Jewish population. Studies have indicated an increased freque...
متن کاملlysosomal storage disease (lsds)
how to cite this article: ghofrani m. lysosomal storage disease (lsds). iran j child neurol. 2015 autumn;9:4(suppl.1): 1. pls see pdf.
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Pompe disease, an inherited deficiency of lysosomal acid α-glucosidase (GAA), is a severe metabolic myopathy with a wide range of clinical manifestations. It is the first recognized lysosomal storage disorder and the first neuromuscular disorder for which a therapy (enzyme replacement) has been approved. As GAA is the only enzyme that hydrolyses glycogen to glucose in the acidic environment of ...
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 کاملlysosomal storage disease
how to cite this article: ghofrani m. lysosomal storage disease. iran j child neurol autumn 2012; 6:4 (suppl. 1):1-2. for reading more pls see pdf
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ژورنال
عنوان ژورنال: Movement Disorders Clinical Practice
سال: 2018
ISSN: 2330-1619
DOI: 10.1002/mdc3.12625