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The Lysosomal Diseases Testing Laboratory: A review of the past 47 years
Lysosomal disorders are diseases that involve mutations in genes responsible for the coding of lysosomal enzymes, transport proteins, activator proteins and protein processing enzymes. These defects lead to the storage of specific metabolites within lysosomes resulting in a great variety of clinical...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley & Sons, Inc.
2020
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7358674/ https://www.ncbi.nlm.nih.gov/pubmed/32685352 http://dx.doi.org/10.1002/jmd2.12117 |