Newborn Screen for X-Linked Adrenoleukodystrophy Using Flow Injection Tandem Mass Spectrometry in Negative Ion Mode

X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder caused by pathogenic variants in the ATP-binding cassette subfamily D member 1 gene (ABCD1) that encodes the adrenoleukodystrophy protein (ALDP). Defects in ALDP result in elevated cerotic acid, and lead to C26:0-lysophosphatidylcholine (C2...

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Detalles Bibliográficos
Autores principales: Teber, Tarek A., Conti, Brian J., Haynes, Christopher A., Hietala, Amy, Baker, Mei W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9036197/
https://www.ncbi.nlm.nih.gov/pubmed/35466198
http://dx.doi.org/10.3390/ijns8020027

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9036197/
https://www.ncbi.nlm.nih.gov/pubmed/35466198
http://dx.doi.org/10.3390/ijns8020027

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