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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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Dades bibliogràfiques
Publicat a:Int J Neonatal Screen
Autors principals: Schwan, Katharina, Youngblom, Janey, Weisiger, Kara, Kianmahd, Jessica, Waggoner, Rebecca, Fanos, Joanna
Format: Artigo
Idioma:Inglês
Publicat: MDPI 2019
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7510238/
https://ncbi.nlm.nih.gov/pubmed/33073000
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijns5040042
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