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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...

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Shranjeno v:
Bibliografske podrobnosti
izdano v:JIMD Rep
Main Authors: Wenger, David A., Luzi, Paola
Format: Artigo
Jezik:Inglês
Izdano: John Wiley & Sons, Inc. 2020
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC7358674/
https://ncbi.nlm.nih.gov/pubmed/32685352
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12117
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