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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...
Autores principales: | Filocamo, Mirella, Morrone, Amelia |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2011
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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 |
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