Case report of dysregulation of primary bile acid synthesis in a family with X-linked adrenoleukodystrophy

RATIONALE: X-linked adrenoleukodystrophy (X-ALD) is a rare disorder caused by mutations in the ABCD1 gene, coding for peroxisomal membrane transporter adrenoleukodystrophy (ALD) protein. The disease is characterized by accumulation of very long chain fatty acids (VLCFAs) in tissues. Adult adrenomyel...

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Detalles Bibliográficos
Autores principales: Płatek, Teresa, Orso, Evelyn, Zapała, Barbara, Polus, Anna, Kieć-Wilk, Beata, Piwowar, Monika, Chojnacka, Monika, Ciałowicz, Urszula, Malczewska-Malec, Małgorzata, Schmitz, Gerd, Solnica, Bogdan, Dembińska-Kieć, Aldona
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6310492/
https://www.ncbi.nlm.nih.gov/pubmed/30544401
http://dx.doi.org/10.1097/MD.0000000000013353

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6310492/
https://www.ncbi.nlm.nih.gov/pubmed/30544401
http://dx.doi.org/10.1097/MD.0000000000013353

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