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

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...

Full description

Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: Elsevier 2017-12-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Lysosomal storage disorders
Lysosomal disorders
Whole exome sequencing
Inborn errors of metabolism
Undiagnosed diseases
Rare diseases
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426917301209

Internet

http://www.sciencedirect.com/science/article/pii/S2214426917301209

Similar Items