Associated Papers
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.
Merkevicius K et al.
Brain : a Journal of Neurology, 2025
Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease.
Malhotra A et al.
Hgg Advances, 2025
Genotype and Phenotype Characteristics of 58 Cases of Mitochondrial Epilepsy with Nuclear DNA Mutations in Children.
Han X et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024
Clinical genome sequencing in patients with suspected rare genetic disease in Peru.
Bazalar-Montoya J et al.
Npj Genomic Medicine, 2024
Classic ketogenic diet-induced ketoacidosis in the treatment of pyruvate dehydrogenase deficiency: a case report and literature review.
Li R et al.
Bmc Pediatrics, 2024
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
Pearls & Oy-sters: Paroxysmal Exercise-Induced Dyskinesias Due to Pyruvate Dehydrogenase Deficiency.
de Gusmao CM et al.
Neurology, 2023
The fibroblast growth factor 21 concentration in children with mitochondrial disease does not depend on the disease stage, but rather on the disease genotype.
Wesół-Kucharska D et al.
Pediatric Endocrinology, Diabetes, and Metabolism, 2022
Clinical exome sequencing reveals a mutation in PDHA1 in Leigh syndrome: A case of a Chinese boy with lethal neuropathy.
Gong K et al.
Molecular Genetics & Genomic Medicine, 2021
Genetic updates on paroxysmal dyskinesias.
Liao JY et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2021
Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.
Imbard A et al.
Molecular Genetics and Metabolism, 2011
Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis.
Barnerias C et al.
Developmental Medicine and Child Neurology, 2010
[Leigh syndrome due to pyruvate dehydrogenase E1 alpha subunit gene mutation: a complicated and difficult case study].
Zhang Y et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2007
Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E1alpha subunit.
Cameron JM et al.
American Journal of Medical Genetics. Part A, 2004
Pyruvate dehydrogenase deficiency presenting as dystonia in childhood.
Head RA et al.
Developmental Medicine and Child Neurology, 2004
[Report of a case with Alstrom syndrome].
Li M et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2004
Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.
Lissens W et al.
Human Mutation, 2000
Mutation analysis of the pyruvate dehydrogenase E1 alpha gene in eight patients with a pyruvate dehydrogenase complex deficiency.
Lissens W et al.
Human Mutation, 1996