Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor
X-linked adrenoleukodystrophy (ALD) is a devastating metabolic disorder affecting the adrenal glands, brain and spinal cord. Males with ALD are at high risk for developing adrenal insufficiency or progressive cerebral white matter lesions (cerebral ALD) at an early age. If untreated, cerebral ALD is often fatal. Women with ALD are not at risk for adrenal insufficiency or cerebral ALD. Newborn screening for ALD in males enables prospective monitoring and timely therapeutic intervention, thereby preventing irreparable damage and saving lives. The Dutch Ministry of Health adopted the advice of th... Mehr ...
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Dokumenttyp: | Artikel |
Erscheinungsdatum: | 2020 |
Reihe/Periodikum: | Frontiers in Cell and Developmental Biology, Vol 8 (2020) |
Verlag/Hrsg.: |
Frontiers Media S.A.
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Schlagwörter: | adrenoleukodystrophy / peroxisomes / newborn screening / neonatal / gender / heel prick / Biology (General) / QH301-705.5 |
Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-27583889 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | https://doi.org/10.3389/fcell.2020.00499 |