The prevalence of diseases caused by lysosome-related genes in a cohort of undiagnosed patients

Lysosomal diseases (LD) comprise a group of approximately 60 hereditary conditions caused by progressive accumulation of metabolites due to defects in lysosomal enzymes and degradation pathways, which lead to a wide range of clinical manifestations. The estimated combined incidence of LD is between...

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Detalhes bibliográficos
Publicado no:Mol Genet Metab Rep
Main Authors: Vairo, Filippo Pinto, Boczek, Nicole J., Cousin, Margot A., Kaiwar, Charu, Blackburn, Patrick R., Conboy, Erin, Lanpher, Brendan C., Gavrilova, Ralitza H., Pichurin, Pavel N., Lazaridis, Konstantinos N., Babovic-Vuksanovic, Dusica, Klee, Eric W.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2017
Assuntos:
Research Paper
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5554961/
https://ncbi.nlm.nih.gov/pubmed/28831385
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2017.08.001
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