Redefining the phenotype of alpha-methylacyl-CoA racemase (AMACR) deficiency
Redefining the phenotype of alpha-methylacyl-CoA racemase (AMACR) deficiency
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Publisher
England: BioMed Central Ltd
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Language
English
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Publisher
England: BioMed Central Ltd
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Contents
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 acid (DHCA) and pristanic acid. With less than 20 patients described...
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Full title
Redefining the phenotype of alpha-methylacyl-CoA racemase (AMACR) deficiency
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TN_cdi_doaj_primary_oai_doaj_org_article_06bcf3f754ad448a8d1311bfc4c466de
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_06bcf3f754ad448a8d1311bfc4c466de
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ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-024-03358-9
