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Case Report: Wolman disease caused by LIPA variants in two Chinese infants and a focused literature synthesis. [PDF]

Front Pediatr
Zhang L, Yu Q, Ge X, Xie X.
europepmc   +1 more source

Autophagy-Lysosomal Dysfunction as a Converging Mechanism of Cardiomyopathy in Lysosomal Storage Disorders: From Pathobiology to Targeted Therapy. [PDF]

Int J Mol Sci
Lee CL, Chuang CK, Chang YH, Chiu HC, Tu YR, Lo YT, Wu JY, Lin HY, Lin SP.   +8 more
europepmc   +1 more source

The Cell Biology of Lysosomal Storage Disorders [PDF]

Nature Reviews Molecular Cell Biology, 2004
Lysosomal storage disorders, of which more than 40 are known, are caused by the defective activity of lysosomal proteins, which results in the intra-lysosomal accumulation of undegraded metabolites.
Gerrit van Meer, Anthony H. Futerman
exaly   +2 more sources

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Treatments for lysosomal storage disorders

Biochemical Society Transactions, 2010
There are over 70 human diseases that are caused by defects in various aspects of lysosomal function. Until 20 years ago, the only specific therapy available for lysosomal storage disorders was allogeneic haemopoietic stem cell transplantation. Over the last two decades, there has been remarkable progress and there are now licensed treatments for seven
openaire   +2 more sources