Associated Papers
Diagnostic impact of whole exome sequencing in neurometabolic disorders in Syrian children: a single center experience.
Al Khudari R et al.
Orphanet Journal of Rare Diseases, 2025
The influence of rare variants in circulating metabolic biomarkers.
Riveros-Mckay F et al.
Plos Genetics, 2020
Serial Magnetic Resonance Imaging (MRI) in Pyruvate Dehydrogenase Complex Deficiency.
Shelkowitz E et al.
Journal of Child Neurology, 2020
Pyruvate dehydrogenase deficiency caused by a new mutation of PDHX gene in two Moroccan patients.
Tajir M et al.
European Journal of Medical Genetics, 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
Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis.
Barnerias C et al.
Developmental Medicine and Child Neurology, 2010
A large genomic deletion in the PDHX gene caused by the retrotranspositional insertion of a full-length LINE-1 element.
Miné M et al.
Human Mutation, 2007
A novel gross deletion caused by non-homologous recombination of the PDHX gene in a patient with pyruvate dehydrogenase deficiency.
Miné M et al.
Molecular Genetics and Metabolism, 0
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