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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Bibliografiska uppgifter

Huvudupphov:	Filippo Pinto Vairo, Nicole J. Boczek, Margot A. Cousin, Charu Kaiwar, Patrick R. Blackburn, Erin Conboy, Brendan C. Lanpher, Ralitza H. Gavrilova, Pavel N. Pichurin, Konstantinos N. Lazaridis, Dusica Babovic-Vuksanovic, Eric W. Klee
Materialtyp:	Artigo
Språk:	Inglês
Utgiven:	Elsevier 2017-12-01
Serie:	Molecular Genetics and Metabolism Reports
Ämnen:	Lysosomal storage disorders Lysosomal disorders Whole exome sequencing Inborn errors of metabolism Undiagnosed diseases Rare diseases
Länkar:	http://www.sciencedirect.com/science/article/pii/S2214426917301209
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