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 (MPS) I in dried blood spots using liquid chromatography–tandem mass spectrometry. Around 20 000 newborn samples were analyzed for 3 lysosomal enzyme activities: α-glucosidase (deficient in Pompe disease), α-galactosidase (deficient in Fabry disease) and α-iduronidase (IDUA, deficient in MPS I). Dat... Mehr ...
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Dokumenttyp: | Artikel |
Erscheinungsdatum: | 2017 |
Reihe/Periodikum: | Journal of Inborn Errors of Metabolism and Screening, Vol 5 (2017) |
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SciELO
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Schlagwörter: | Medicine (General) / R5-920 |
Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-28563255 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | https://doi.org/10.1177/2326409817744231 |