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AB102. A pilot newborn screening program for X-linked adrenoleukodystrophy
BACKGROUND: X-linked adrenoleukodystrophy (X-ALD) is a rare inherited metabolic disorder and is caused by mutations in the ABCD1 gene encoding a peroxisomal ABC transporter ALDP. X-ALD can show a variety of phenotypic manifestations from severe childhood cerebral ALD to adult-onset adrenomyeloneurop...
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| Publicado no: | Ann Transl Med |
|---|---|
| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
AME Publishing Company
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5641734/ https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/atm.2017.s102 |
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