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 ...

Verfasser: Rinse W. Barendsen
Inge M. E. Dijkstra
Wouter F. Visser
Mariëlle Alders
Jet Bliek
Anita Boelen
Marelle J. Bouva
Saskia N. van der Crabben
Ellen Elsinghorst
Ankie G. M. van Gorp
Annemieke C. Heijboer
Mandy Jansen
Yorrick R. J. Jaspers
Henk van Lenthe
Ingrid Metgod
Christiaan F. Mooij
Elise H. C. van der Sluijs
A. S. Paul van Trotsenburg
Rendelien K. Verschoof-Puite
Frédéric M. Vaz
Hans R. Waterham
Frits A. Wijburg
Marc Engelen
Eugènie Dekkers
Stephan Kemp
Dokumenttyp: Artikel
Erscheinungsdatum: 2020
Reihe/Periodikum: Frontiers in Cell and Developmental Biology, Vol 8 (2020)
Verlag/Hrsg.: Frontiers Media S.A.
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