Family Perspectives on Newborn Screening for X-Linked Adrenoleukodystrophy in California

X-linked adrenoleukodystrophy (ALD) is caused by gene variants in the ABCD1 gene, resulting in a varied clinical spectrum. Males with ALD present with symptoms ranging from isolated adrenal insufficiency and slowly progressive myelopathy to severe cerebral demyelination. Females who are heterozygous...

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Detalles Bibliográficos
Autores principales: Schwan, Katharina, Youngblom, Janey, Weisiger, Kara, Kianmahd, Jessica, Waggoner, Rebecca, Fanos, Joanna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7510238/
https://www.ncbi.nlm.nih.gov/pubmed/33073000
http://dx.doi.org/10.3390/ijns5040042

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