Glycosphingolipidoses: beyond the enzymatic defect.
作者： Annick Raas-Rothschild , Irene Pankova-Kholmyansky , Yaacov Kacher , Anthony H. Futerman
DOI: 10.1023/B:GLYC.0000046272.38480.EF
关键词:
摘要: The glycosphingolipid lysosomal storage diseases are a group of monogenic human disorders caused by the impaired catalytic activity enzymes responsible for catabolism. Clinical presentation is heterogeneous, with little obvious correlation between kind accumulating and disease progression or pathogenesis. In this review, we discuss clinical symptoms diseases, attempt to link pathology biochemical cellular pathways that may be potentially altered in diseases. Published 2004.
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