Selective screening for lysosomal storage disorders in a large cohort of minorities of African descent shows high prevalence rates and novel variants

Selective screening for lysosomal storage disorders in a large cohort of minorities of African descent shows high prevalence rates and novel variants

Abstract Population studies point to regional and ethnicity‐specific differences in genetic predisposition for some lysosomal storage disorders (LSDs). The aim of the study was to determine the prevalence of the three treatable forms of lysosomal storage disorders (Gaucher disease [GD], Pompe diseas...

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Bibliographic Details
Main Authors: Renuka Pudi Limgala, Vyacheslav Furtak, Margarita M. Ivanova, Erk Changsila, Floyd Wilks, Marie N. Fidelia‐Lambert, Ozlem Goker‐Alpan, Marjorie C. Gondré‐Lewis
Format: Article
Language:English
Published: Wiley 2021-05-01
Series:JIMD Reports
Subjects:
African‐Americans
Fabry disease
Gaucher disease
large‐scale screening
lysosomal storage disorders
Pompe disease
Online Access:https://doi.org/10.1002/jmd2.12201

Internet

https://doi.org/10.1002/jmd2.12201

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