Newborn Screening for Lysosomal Storage Disorders in Belgium The Importance of Sex- and Age-Dependent Reference Ranges
Abstract 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: ?-glucosidase (deficient in Pompe disease), ?-galactosidase (deficient in Fabry disease) and ?-iduronidase (IDUA, deficient in MP... Mehr ...
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Dokumenttyp: | Artikel |
Erscheinungsdatum: | 2017 |
Verlag/Hrsg.: |
Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT)
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Schlagwörter: | neonatal screening / lysosomal storage diseases / tandem mass spectrometry / cutoff / dried blood spots |
Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-28540370 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942017000100311 |