Novel ABCD1 Gene Mutation in a Korean Patient with X-Linked Adrenoleukodystrophy Presenting with Addison's Disease

X-linked adrenoleukodystrophy (X-ALD) occurs due to mutations in the ABCD1 gene that encodes the peroxisomal membrane protein peroxisomal transporter ATP-binding cassette sub-family D member 1 (ABCD1). Degradation of very long-chain fatty acids in peroxisomes is impaired owing to ABCD dysfunction, s...

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Detalles Bibliográficos
Autores principales: Cho, Yun Kyung, Lee, Seo-Young, Kim, Sang-Wook
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Endocrine Society 2020
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7090298/
https://www.ncbi.nlm.nih.gov/pubmed/32207279
http://dx.doi.org/10.3803/EnM.2020.35.1.188

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7090298/
https://www.ncbi.nlm.nih.gov/pubmed/32207279
http://dx.doi.org/10.3803/EnM.2020.35.1.188

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