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

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


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 adrenomyeloneuropathy (AMN) and the cerebral inflammatory form of ALD are the main phenotypes presenting ...


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