Audrey C. Boutron

Paris, 94270, France

Last Updated: 09/26/2026

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Found 27 publications

MPC2 variants disrupt mitochondrial pyruvate metabolism and cause an early-onset mitochondriopathy.

MPC2 variants disrupt mitochondrial pyruvate metabolism and cause an early-onset mitochondriopathy.

Journal: Brain : a journal of neurology

Published: July 01, 2022

Expanding the phenotype of mitochondrial disease: Novel pathogenic variant in ISCA1 leading to instability of the iron-sulfur cluster in the protein.

Expanding the phenotype of mitochondrial disease: Novel pathogenic variant in ISCA1 leading to instability of the iron-sulfur cluster in the protein.

Journal: Mitochondrion

Published: November 08, 2019

Sensory neuronopathy as a major clinical feature of mitochondrial trifunctional protein deficiency in adults.

Sensory neuronopathy as a major clinical feature of mitochondrial trifunctional protein deficiency in adults.

Journal: Revue neurologique

Published: June 11, 2019

Two human patient mitochondrial pyruvate carrier mutations reveal distinct molecular mechanisms of dysfunction.

Two human patient mitochondrial pyruvate carrier mutations reveal distinct molecular mechanisms of dysfunction.

Journal: JCI insight

Published: May 31, 2019

Prenatal sonographic description of fetuses affected by pyruvate dehydrogenase or pyruvate carboxylase deficiency.

Prenatal sonographic description of fetuses affected by pyruvate dehydrogenase or pyruvate carboxylase deficiency.

Journal: Prenatal diagnosis

Published: February 13, 2018

Fluxomic assay-assisted diagnosis orientation in a cohort of 11 patients with myopathic form of CPT2 deficiency.

Fluxomic assay-assisted diagnosis orientation in a cohort of 11 patients with myopathic form of CPT2 deficiency.

Journal: Molecular genetics and metabolism

Published: November 21, 2017

Carnitine palmitoyltransferase type 2 deficiency: novel mutation in a Native South American family with whole-body muscle magnetic resonance imaging findings: two case reports.

Carnitine palmitoyltransferase type 2 deficiency: novel mutation in a Native South American family with whole-body muscle magnetic resonance imaging findings: two case reports.

Journal: Journal of medical case reports

Published: August 07, 2017

Impact of mutations within the [Fe-S] cluster or the lipoic acid biosynthesis pathways on mitochondrial protein expression profiles in fibroblasts from patients.

Impact of mutations within the [Fe-S] cluster or the lipoic acid biosynthesis pathways on mitochondrial protein expression profiles in fibroblasts from patients.

Journal: Molecular genetics and metabolism

Published: June 06, 2017

Assembly defects of multiple respiratory chain complexes in a child with cardiac hypertrophy associated with a novel ACAD9 mutation.

Assembly defects of multiple respiratory chain complexes in a child with cardiac hypertrophy associated with a novel ACAD9 mutation.

Journal: Molecular genetics and metabolism

Published: April 06, 2017

A somatic mosaicism in the G6PD gene inducing a late onset chronic non-spherocytic hemolytic anemia.

A somatic mosaicism in the G6PD gene inducing a late onset chronic non-spherocytic hemolytic anemia.

Journal: American journal of hematology

Published: April 03, 2017

Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.

Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.

Journal: American journal of human genetics

Published: March 28, 2017

Ketone Bodies as a Possible Adjuvant to Ketogenic Diet in PDHc Deficiency but Not in GLUT1 Deficiency.

Ketone Bodies as a Possible Adjuvant to Ketogenic Diet in PDHc Deficiency but Not in GLUT1 Deficiency.

Journal: JIMD reports

Published: March 08, 2017

Showing 1-12 of 27

Last Updated: 09/26/2026