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Pyruvate Dehydrogenase Complex Deficiency: Updating the Clinical, Metabolic and Mutational Landscapes in a Cohort of Portuguese Patients

Hana Pavlu-Pereira,Maria Joao Silva,Cristina Florindo,Silvia Sequeira,Ana Cristina Ferreira,Sofia Duarte,Ana Luisa Rodrigues,Patricia Janeiro,Anabela Oliveira,Daniel Gomes,Anabela Bandeira,Esmeralda Martins, Roseli Gomes,Sergia Soares,Isabel Tavares de Almeida,Joao B. Vicente,Isabel Rivera

Orphanet Journal of Rare Diseases（2020）

引用 21|浏览36
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关键词
Pyruvate dehydrogenase complex deficiency,Neurological dysfunction,Lactic acidosis,Mutational analysis,Genotype-phenotype correlation
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