X‐linked pyruvate dehydrogenase complex deficiency due to a novel PDHA1 variant associated with structural brain abnormalities in a fetus

Rare metabolic disease mimicking COL4A1 / COL4A2 fetal brain phenotype

(2022) T. Coste et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Structural and functional impact of clinically relevant E1α variants causing pyruvate dehydrogenase complex deficiency

(2021) Hana Pavlu-Pereira et al.   BIOCHIMIE

The Fetus with Ganglionic Eminence Abnormality: Head Size and Extracranial Sonographic Findings Predict Genetic Diagnoses and Postnatal Outcomes

(2021) S.K. Goergen et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Phenotypic and Neuropathological Characterization of Fetal Pyruvate Dehydrogenase Deficiency

(2016) Nathalie Pirot et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: Lack of correlation with genotype

(2012) Suzanne D. DeBrosse et al.   MOLECULAR GENETICS AND METABOLISM

The spectrum of pyruvate dehydrogenase complex deficiency: Clinical, biochemical and genetic features in 371 patients

(2012) Kavi P. Patel et al.   MOLECULAR GENETICS AND METABOLISM

Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein

(2011) A. Imbard et al.   MOLECULAR GENETICS AND METABOLISM