Associated Papers
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.
Merkevicius K et al.
Brain : a Journal of Neurology, 2025
Genetic aetiologies in relation to response to the ketogenic diet in 226 children with epilepsy.
Dahlin M et al.
Brain Communications, 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
Leigh Syndrome: Spectrum of Molecular Defects and Clinical Features in Russia.
Kistol D et al.
International Journal of Molecular Sciences, 2023
Genetic Determinants of Sudden Unexpected Death in Pediatrics.
Koh HY et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Genetic etiologies associated with infantile hydrocephalus in a Chinese infantile cohort.
Mei HF et al.
World Journal of Pediatrics : Wjp, 2021
Dosage Compensation in Females with X-Linked Metabolic Disorders.
Juchniewicz P et al.
International Journal of Molecular Sciences, 2021
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
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical Genetics, 2020
Serial Magnetic Resonance Imaging (MRI) in Pyruvate Dehydrogenase Complex Deficiency.
Shelkowitz E et al.
Journal of Child Neurology, 2020
Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair.
Horga A et al.
Human Genetics, 2019
The clinical and genetic characteristics in children with mitochondrial disease in China.
Fang F et al.
Science China. Life Sciences, 2017
Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.
Alfadhel M et al.
Orphanet Journal of Rare Diseases, 2016
Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype.
DeBrosse SD et al.
Molecular Genetics and Metabolism, 2012
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
Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency.
Quintana E et al.
Clinical Genetics, 2010
Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis.
Barnerias C et al.
Developmental Medicine and Child Neurology, 2010
Pyruvate dehydrogenase deficiency: identification of a novel mutation in the PDHA1 gene which responds to amino acid supplementation.
João Silva M et al.
European Journal of Pediatrics, 2009
Females with PDHA1 gene mutations: a diagnostic challenge.
Willemsen M et al.
Mitochondrion, 2006
Differential effect of DCA treatment on the pyruvate dehydrogenase complex in patients with severe PDHC deficiency.
Fouque F et al.
Pediatric Research, 2003
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