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...

Full description

Saved in:
Bibliographic Details
Published in:Int J Neonatal Screen
Main Authors: Schwan, Katharina, Youngblom, Janey, Weisiger, Kara, Kianmahd, Jessica, Waggoner, Rebecca, Fanos, Joanna
Format: Artigo
Language:Inglês
Published: MDPI 2019
Subjects:
Article
Online Access: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
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items