Articles with "peroxisomal disease" as a keyword



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Newly defined peroxisomal disease with novel ACBD5 mutation

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Published in 2021 at "Journal of Pediatric Endocrinology and Metabolism"

DOI: 10.1515/jpem-2020-0352

Abstract: Abstract Peroxisomal disorders are a heterogeneous group of diseases caused by mutations in a large number of genes. One of the genetic disorders known to cause this situation is ACBD5 (Acyl-CoA binding-domain-containing-5) gene mutations that… read more here.

Keywords: novel acbd5; defined peroxisomal; newly defined; acbd5 mutation ... See more keywords