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

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 disease [PD], a...

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Detalles Bibliográficos
Autores principales: Limgala, Renuka Pudi, Furtak, Vyacheslav, Ivanova, Margarita M., Changsila, Erk, Wilks, Floyd, Fidelia‐Lambert, Marie N., Goker‐Alpan, Ozlem, Gondré‐Lewis, Marjorie C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Research Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8100401/
https://www.ncbi.nlm.nih.gov/pubmed/33977031
http://dx.doi.org/10.1002/jmd2.12201

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