Brain : a journal of neurology
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.
Kajus Merkevicius, Dmitrii Smirnov, Lea D Schlieben, Rebecca Ganetzky, René G Feichtinger, Huafang Jiang, Fang Fang, Tomohiro Ebihara, Kei Murayama, Giulia Ferrera, Anna Ardissone, Dariusz Rokicki, Dorota Wesol-Kucharska, Sabine Schröder, Peter Bauer
Published: 202510.1093/brain/awaf430
Abstract
This retrospective study on X-linked PDHA1-related pyruvate dehydrogenase complex (PDHc) deficiency combined a systematic literature review with a multicenter survey exploring genotypes, phenotypes, and survival. Data from 891 individuals (45% unpubl…
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