Diagnosing X-Linked Adrenoleukodystrophy after Implementation of Newborn Screening: A Reference Laboratory Perspective.
Zellweger spectrum disorders
adrenoleukodystrophy
newborn screening
pre-symptomatic disease detection
very long-chain fatty acids
Journal
International journal of neonatal screening
ISSN: 2409-515X
Titre abrégé: Int J Neonatal Screen
Pays: Switzerland
ID NLM: 101665400
Informations de publication
Date de publication:
02 Nov 2023
02 Nov 2023
Historique:
received:
06
10
2023
revised:
27
10
2023
accepted:
30
10
2023
medline:
21
11
2023
pubmed:
21
11
2023
entrez:
21
11
2023
Statut:
epublish
Résumé
Adrenoleukodystrophy (ALD) is caused by pathogenic variants in the
Identifiants
pubmed: 37987477
pii: ijns9040064
doi: 10.3390/ijns9040064
pmc: PMC10660695
pii:
doi:
Types de publication
Journal Article
Langues
eng
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