Manifestations of X‐linked pyruvate dehydrogenase complex deficiency in female PDHA1 carriers
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DOI: 10.1111/ene.16283
Abstract: Pyruvate dehydrogenase complex deficiency is in up to 90% caused by pathogenic variants in the X‐linked PDHA1 gene. We aimed to investigate female relatives of index patients with PDHA1‐related disease to (i) describe the prevalence… read more here.
Keywords: female pdha1; pdha1 carriers; pyruvate dehydrogenase; complex deficiency ... See more keywords