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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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| Publicat a: | Int J Neonatal Screen |
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| Autors principals: | , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
MDPI
2019
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| 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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