Last Updated: 09/26/2026
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Found 34 publications
Is an emerging pharmacotherapeutic era for rare mitochondrial diseases here?
Journal: Cell metabolism
Published: April 18, 2026
First-in-human nuclease-free homologous recombination-dependent gene editing in pediatric patients with methylmalonic acidemia: results of a phase 1/2 study.
Journal: Gene therapy
Published: August 22, 2025
Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database.
Journal: Molecular genetics & genomic medicine
Published: November 18, 2023
A novel GK Ala469Val variant resulting in glycerol kinase deficiency with concurrent hepatoblastoma: A case report.
Journal: Molecular genetics and metabolism reports
Published: October 13, 2023
Amino acid ratio combinations as biomarkers for discriminating patients with pyruvate dehydrogenase complex deficiency from other inborn errors of metabolism.
Journal: Molecular genetics & genomic medicine
Published: May 16, 2023
Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin.
Journal: Molecular genetics and metabolism
Published: April 04, 2023
Simulations of Pathogenic E1α Variants: Allostery and Impact on Pyruvate Dehydrogenase Complex-E1 Structure and Function.
Journal: Journal of chemical information and modeling
Published: July 07, 2022
Novel multilocus imprinting disturbances in a child with expressive language delay and intellectual disability.
Journal: American journal of medical genetics. Part A
Published: December 10, 2021
Solvent accessibility of E1α and E1β residues with known missense mutations causing pyruvate dehydrogenase complex (PDC) deficiency: Impact on PDC-E1 structure and function.
Journal: Journal of inherited metabolic disease
Published: October 23, 2021
Enantiomer-specific pharmacokinetics of D,L-3-hydroxybutyrate: Implications for the treatment of multiple acyl-CoA dehydrogenase deficiency.
Journal: Journal of inherited metabolic disease
Published: November 16, 2020
Novel presentations associated with a PDHA1 variant - Alternating hemiplegia in Hemizygote proband and Guillain Barre Syndrome in Heterozygote mother.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: September 09, 2020
Last Updated: 09/26/2026