Associated Papers
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.
Merkevicius K et al.
Brain : a Journal of Neurology, 2025
41239557 (PubMed )
Supplement: awaf430_supplementary_data.pdf
Case Report: A novel hemizygous missense PDHA1 variant in a Vietnamese boy with pyruvate dehydrogenase E1-alpha deficiency.
Nguyen TTN et al.
Frontiers in Pediatrics, 2024
Solvent accessibility of E1α and E1β residues with known missense mutations causing pyruvate dehydrogenase complex (PDC) deficiency: Impact on PDC-E1 structure and function.
Ducich NH et al.
Journal of Inherited Metabolic Disease, 2022
Dosage Compensation in Females with X-Linked Metabolic Disorders.
Juchniewicz P et al.
International Journal of Molecular Sciences, 2021
33925963 (PubMed )
Supplement: ijms-22-04514-s001.zip › Supplementary_File_Table_S2.pdf
Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis.
Alaimo JT et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32439973 (PubMed )
Supplement: NIHMS1603460-supplement-Supplemental_Data.xlsx › Supplementary_Table_2
Thiamine-Responsive and Non-responsive Patients with PDHC-E1 Deficiency: A Retrospective Assessment.
van Dongen S et al.
Jimd Reports, 2015
A Korean female patient with thiamine-responsive pyruvate dehydrogenase complex deficiency due to a novel point mutation (Y161C)in the PDHA1 gene.
Lee EH et al.
Journal of Korean Medical Science, 2006
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