نتایج جستجو برای: lysosomal storage diseases

تعداد نتایج: 1035749  

Journal: :Journal of Inborn Errors of Metabolism and Screening 2016

Journal: :Journal of clinical images and medical case reports 2023

Niemann-Pick Diseases (NPD) is lysosomal storage diseases caused by Acid Sphingo Myelinase (ASM) deficiency, which catalyzes the hydrolysis of Myelin

Journal: :BioImpacts : BI 2013
David A Wenger Paola Luzi Mohammad A Rafi

The name of lysosomal storage diseases stems from the fact that in this category of disorders specific undegraded materials are stored in the lysosomes. This is usually caused by a lysosomal enzyme deficiency and leads to a cascade of pathological outcomes. Apart from deficiency of lysosomal enzymes, lysosomal storage diseases also include deficiencies in proteins necessary for enzyme functioni...

Journal: :iranian journal of child neurology 0
massoud houshmand 1. assistant professor of human molecular genetics, department of medical genetic, national institute for genetic engineering and biotechnology, tehran, iran seyed hassan tonekaboni 2.professor of pediatric neurology, pediatric neurology research center, shahid beheshti university of medical sciences,tehran, iran parvaneh karimzadeh professor of pediatric neurology, pediatric neurology research center, shahid beheshti university of medical sciences,tehran, iran omid aryani genetic counselor, medical genetic dep. special medical center, tehran, iran mahmoudreza ashrafi professor of pediatric neurology, growth and development research center, children´s medical center, tehran university of medical science, tehran, iran shadab salehpour associate professor of pediatric endocrinology and metabolism, shahid beheshti university of medical sciences, tehran, iran

how to cite this article: houshmand m, tonekaboni sh, karimzadeh p, aryani o, ashrafimr, salehpour sh, badv sh, shakiba m, alaee mr, farshid sh. lysosomal storage disease iniran. (report of molecular study). iran j child neurol autumn 2012; 6:4 (suppl. 1): 22.   pls see pdf.

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