Variable clinical phenotypes of alpha‐methylacyl‐CoA racemase deficiency: Report of four cases and review of the literature

Abstract Alpha‐methylacyl‐CoA‐racemase (AMACR) deficiency (MIM#604489) is a peroxisomal disorder resulting in the accumulation of pristanic acid, dihydroxycholestanoic acid (DHCA), and trihydroxycholestanoic acid (THCA), with variable clinical features and age of onset from infancy to late adulthood...

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Principais autores:	Arzu Selamioğlu, Mehmet Cihan Balcı, Meryem Karaca, Youssef Khalil, Rohit Hirachan, Hacer Durmuş Tekçe, Yeşim Gülşen Parman, Asuman Gedikbaşı, Mübeccel Demirkol, Peter Clayton, Gülden Gökçay
Format:	Artigo
Jezik:	Inglês
Izdano:	Wiley 2024-09-01
Serija:	JIMD Reports
Teme:	alpha‐methylacyl‐CoA racemase deficiency AMACR gene hypocholesterolemia peroxisomal disorders rhabdomyolysis variable phenotype
Online dostop:	https://doi.org/10.1002/jmd2.12437
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