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Redefining the phenotype of alpha-methylacyl-CoA racemase (AMACR) deficiency

Abstract Background Alpha-methylacyl-CoA racemase (AMACR) deficiency is a rare peroxisomal enzyme deficiency caused by biallelic variants in the AMACR gene. This deficiency leads to the accumulation of toxic bile acid intermediates (R)-trihydroxycholestenoic acid (THCA) and (R)-dihydroxycholestenoic...

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Autori principali: Femke C.C. Klouwer, Stefan D. Roosendaal, Carla E. M. Hollak, Mirjam Langeveld, Bwee Tien Poll-The, Arlette J. van Sorge, Nicole I. Wolf, Marjo S. van der Knaap, Marc Engelen
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMC 2024-09-01
Serie:Orphanet Journal of Rare Diseases
Soggetti:
AMACR
Alpha-methylacyl-CoA racemase
Peroxisomal disorder
Phenotype
Bile acid synthesis
Accesso online:https://doi.org/10.1186/s13023-024-03358-9
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