Newborn Screening for X-Linked Adrenoleukodystrophy in Nebraska: Initial Experiences and Challenges

X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disease caused by pathogenic variants in ABCD1 resulting in defective peroxisomal oxidation of very long-chain fatty acids. Most male patients develop adrenal insufficiency and one of two neurologic phenotypes: a rapidly progressive demyel...

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Detalles Bibliográficos
Autores principales: Baker, Craig V., Cady Keller, Alyssa, Lutz, Richard, Eveans, Karen, Baumert, Krystal, DiPerna, James C., Rizzo, William B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9149921/
https://www.ncbi.nlm.nih.gov/pubmed/35645283
http://dx.doi.org/10.3390/ijns8020029

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9149921/
https://www.ncbi.nlm.nih.gov/pubmed/35645283
http://dx.doi.org/10.3390/ijns8020029

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