Associated Papers
Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients.
Pavlu-Pereira H et al.
Orphanet Journal of Rare Diseases, 2020
Genes and Variants Underlying Human Congenital Lactic Acidosis-From Genetics to Personalized Treatment.
Bravo-Alonso I et al.
Journal of Clinical Medicine, 2019
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