Glycosphingolipidoses: Beyond the enzymatic defect
@article{RaasRothschild2004GlycosphingolipidosesBT, title={Glycosphingolipidoses: Beyond the enzymatic defect}, author={Annick Raas-Rothschild and Irene Pankova-Kholmyansky and Yaacov Kacher and Anthony H. Futerman}, journal={Glycoconjugate Journal}, year={2004}, volume={21}, pages={295-304} }
The glycosphingolipid lysosomal storage diseases are a group of monogenic human disorders caused by the impaired catalytic activity of enzymes responsible for glycosphingolipid catabolism. Clinical presentation of the diseases is heterogeneous, with little obvious correlation between the kind of accumulating glycosphingolipid and disease progression or pathogenesis. In this review, we discuss clinical symptoms of this group of diseases, and attempt to link disease progression and pathology with…
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