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

Limgala, Renuka Pudi; Furtak, Vyacheslav; Ivanova, Margarita M; Changsila, Erk; Wilks, Floyd; Fidelia-Lambert, Marie N; Goker-Alpan, Ozlem; Gondré-Lewis, Marjorie C

Limgala, Renuka Pudi; Furtak, Vyacheslav; Ivanova, Margarita M; Changsila, Erk; Wilks, Floyd; Fidelia-Lambert, Marie N; Goker-Alpan, Ozlem; Gondré-Lewis, Marjorie C.

Limgala RP; Lysosomal and Rare Disorders Research and Treatment Center Fairfax Virginia USA.
Furtak V; Lysosomal and Rare Disorders Research and Treatment Center Fairfax Virginia USA.
Ivanova MM; Lysosomal and Rare Disorders Research and Treatment Center Fairfax Virginia USA.
Changsila E; Lysosomal and Rare Disorders Research and Treatment Center Fairfax Virginia USA.
Wilks F; Developmental Neuropsychopharmacology Laboratory, Department of Anatomy Howard University College of Medicine Washington District of Columbia USA.
Fidelia-Lambert MN; Department of Pathology Howard University Hospital Washington District of Columbia USA.
Goker-Alpan O; Lysosomal and Rare Disorders Research and Treatment Center Fairfax Virginia USA.
Gondré-Lewis MC; Developmental Neuropsychopharmacology Laboratory, Department of Anatomy Howard University College of Medicine Washington District of Columbia USA.

JIMD Rep ; 59(1): 60-68, 2021 May.

Article en En | MEDLINE | ID: mdl-33977031

Palabras clave

AfricanAmericans; Fabry disease; Gaucher disease; Pompe disease; largescale screening; lysosomal storage disorders

Texto completo

Imprimir

XML

PubMed Links

Search on Google

Texto completo: 1 Banco de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Prevalence_studies / Risk_factors_studies / Screening_studies Idioma: En Año: 2021 Tipo del documento: Article

Texto completo

Imprimir

XML

PubMed Links

Search on Google