Clinical manifestations in two patients with pyruvate dehydrogenase deficiency and long-term survival

Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) results in lactic acidosis and hyperpyruvatemia. Two patients with PDHAD, a man with a p.R263Q mutation, and a girl with a p.C145del mutation in PDHE1α, presented with lactic acidosis with neurological disorder. These patients were able to survive f...

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Enregistré dans:
Détails bibliographiques
Publié dans:Hum Genome Var
Auteurs principaux: Yoshida, Takanobu, Kido, Jun, Mitsubuchi, Hiroshi, Matsumoto, Shirou, Endo, Fumio, Nakamura, Kimitoshi
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group 2017
Sujets:
Data Report
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5451473/
https://ncbi.nlm.nih.gov/pubmed/28584645
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2017.20
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