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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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Detalles Bibliográficos
Autores principales: Filocamo, Mirella, Morrone, Amelia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3500170/
https://www.ncbi.nlm.nih.gov/pubmed/21504867
http://dx.doi.org/10.1186/1479-7364-5-3-156