Diagnosing X-Linked Adrenoleukodystrophy after Implementation of Newborn Screening: A Reference Laboratory Perspective

Adrenoleukodystrophy (ALD) is caused by pathogenic variants in the ABCD1 gene, encoding for the adrenoleukodystrophy protein (ALDP), leading to defective peroxisomal β-oxidation of very long-chain and branched-chain fatty acids (VLCFA). ALD manifests in both sexes with a spectrum of phenotypes, but...

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Detalles Bibliográficos
Autores principales: Prinzi, Julia, Pasquali, Marzia, Hobert, Judith A., Palmquist, Rachel, Wong, Kristen N., Francis, Stephanie, De Biase, Irene
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10660695/
https://www.ncbi.nlm.nih.gov/pubmed/37987477
http://dx.doi.org/10.3390/ijns9040064

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10660695/
https://www.ncbi.nlm.nih.gov/pubmed/37987477
http://dx.doi.org/10.3390/ijns9040064

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