Newborn Screening for X-Linked Adrenoleukodystrophy (X-ALD): Biochemical, Molecular, and Clinical Characteristics of Other Genetic Conditions.
ABCD1 gene
PEX genes
X-linked adrenoleukodystrophy (X-ALD)
Zellweger spectrum disorder (ZSD)
newborn screening (NBS)
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
26 Jun 2024
26 Jun 2024
Historique:
received:
09
05
2024
revised:
20
06
2024
accepted:
24
06
2024
medline:
27
7
2024
pubmed:
27
7
2024
entrez:
27
7
2024
Statut:
epublish
Résumé
The state of California (CA) added X-linked adrenoleukodystrophy (X-ALD) to newborn screening (NBS) in 2016 via the measurement of C26:0-lysophosphatidylcholine (C26:0-LPC) in a two-tier fashion, followed by sequencing of the
Identifiants
pubmed: 39062617
pii: genes15070838
doi: 10.3390/genes15070838
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM