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Academic Journal

Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients.

  • Authors : Pavlu-Pereira H; Metabolism and Genetics Group, Research Institute for Medicines (iMed.ULisboa), Faculty of Pharmacy, Universidade de Lisboa, Av. Prof. Gama Pinto, 1649-003, Lisboa, Portugal.; Silva MJ

Subjects: Pyruvate Dehydrogenase Complex Deficiency Disease*/Pyruvate Dehydrogenase Complex Deficiency Disease*/Pyruvate Dehydrogenase Complex Deficiency Disease*/genetics; Humans ; Mutation/Mutation/Mutation/genetics

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2020 Oct 22; Vol. 15 (1), pp. 298. Date of Electronic Publication: 2020 Oct 22.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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  • 1-1 of  1 results for ""Pyruvate Dehydrogenase Complex Deficiency Disease""