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Lysosomal storage disorders: Molecular basis and laboratory testing

Lysosomal storage disorders (LSDs) are a large group of more than 50 different inherited metabolic diseases which, in the great majority of cases, result from the defective function of specific lysosomal enzymes and, in cases, of non-enzymatic lysosomal proteins or non-lysosomal proteins involved in...

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Bibliografiske detaljer
Main Authors: Filocamo, Mirella, Morrone, Amelia
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2011
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3500170/
https://ncbi.nlm.nih.gov/pubmed/21504867
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1479-7364-5-3-156
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