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Newborn Screening for Lysosomal Storage Disorders in Belgium

Lysosomal storage disorders (LSDs) are a group of metabolic disorders with various clinical presentations, which complicate diagnosis. A pilot study was performed to test the appropriateness and effectiveness of the newborn screening method for Pompe disease, Fabry disease and mucopolysaccharidosis...

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Autors principals: Francois Eyskens MD, PhD, Sylvie Devos PhD
Format: Artigo
Idioma:Inglês
Publicat: SciELO 2017-11-01
Col·lecció:Journal of Inborn Errors of Metabolism and Screening
Accés en línia:https://doi.org/10.1177/2326409817744231
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