Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania

X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. It results from pathogenic variants in ABCD1, which encodes the peroxisomal very-long-chain fatty acid transporter, causing a spectrum of neurodegenerative phenotypes. The childhood cerebral form of the disease is particu...

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Detalles Bibliográficos
Autores principales: Priestley, Jessica R. C., Adang, Laura A., Drewes Williams, Sarah, Lichter-Konecki, Uta, Menello, Caitlin, Engelhardt, Nicole M., DiPerna, James C., DiBoscio, Brenda, Ahrens-Nicklas, Rebecca C., Edmondson, Andrew C., Reynoso Santos, Francis Jeshira, Ficicioglu, Can
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9036281/
https://www.ncbi.nlm.nih.gov/pubmed/35466195
http://dx.doi.org/10.3390/ijns8020024

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9036281/
https://www.ncbi.nlm.nih.gov/pubmed/35466195
http://dx.doi.org/10.3390/ijns8020024

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