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: Barendsen, Rinse W.
Dijkstra, Inge M.E.
Visser, Wouter F.
Alders, Mariëlle
Bliek, Jet
Boelen, Anita
Bouva, Marelle J.
van der Crabben, Saskia N.
Elsinghorst, Ellen
van Gorp, Ankie G.M.
Heijboer, Annemieke C.
Jansen, Mandy
Jaspers, Yorrick R.J.
van Lenthe, Henk
Metgod, Ingrid
Mooij, Christiaan F.
van der Sluijs, Elise H.C.
van Trotsenburg, A. S.Paul
Verschoof-Puite, Rendelien K.
Vaz, Frédéric M.
Waterham, Hans R.
Wijburg, Frits A.
Engelen, Marc
Dekkers, Eugènie
Kemp, Stephan
Dokumenttyp: Artikel
Erscheinungsdatum: 2020
Reihe/Periodikum: Barendsen , R W , Dijkstra , I M E , Visser , W F , Alders , M , Bliek , J , Boelen , A , Bouva , M J , van der Crabben , S N , Elsinghorst , E , van Gorp , A G M , Heijboer , A C , Jansen , M , Jaspers , Y R J , van Lenthe , H , Metgod , I , Mooij , C F , van der Sluijs , E H C , van Trotsenburg , A S P , Verschoof-Puite , R K , Vaz , F M , Waterham , H R , Wijburg , F A , Engelen , M , Dekkers , E & Kemp , S 2020 , ' Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study) : The X-Factor ' , Frontiers in Cell and Developmental Biology , vol. 8 , 499 . https://doi.org/10.3389/fcell.2020.00499
Sprache: Englisch
Permalink: https://search.fid-benelux.de/Record/base-29215235
Datenquelle: BASE; Originalkatalog
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Link(s) : https://research.vumc.nl/en/publications/302341fd-d503-4a9b-88b7-2b6a2f9526b0