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