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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Foilsithe in:Medicine (Baltimore)
Main Authors: 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
Formáid: Artigo
Teanga:Inglês
Foilsithe: Wolters Kluwer Health 2018
Ábhair:
Research Article
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6310492/
https://ncbi.nlm.nih.gov/pubmed/30544401
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000013353
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