Catherine Guitton-Brunel

Montreal, QC, Canada

Last Updated: 09/26/2026

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Found 27 publications

Influence of a 12 week at-home resistance exercise program on 13C-glucose metabolism in patients with metabolic myopathies.

Influence of a 12 week at-home resistance exercise program on 13C-glucose metabolism in patients with metabolic myopathies.

Journal: Molecular genetics and metabolism

Published: October 17, 2025

The MMACHC variant c.158T>C: Mild clinical and biochemical phenotypes and marked hydroxocobalamin response in cblC patients.

The MMACHC variant c.158T>C: Mild clinical and biochemical phenotypes and marked hydroxocobalamin response in cblC patients.

Journal: Molecular genetics and metabolism

Published: December 20, 2023

Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.

Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.

Journal: BMC pediatrics

Published: May 19, 2023

Use of dexamethasone in acute rhabdomyolysis in LPIN1 deficiency.

Use of dexamethasone in acute rhabdomyolysis in LPIN1 deficiency.

Journal: Molecular genetics and metabolism reports

Published: January 06, 2023

Prenatal pleural effusions and chylothorax: An unusual presentation for CM-AVM syndrome due to RASA1.

Prenatal pleural effusions and chylothorax: An unusual presentation for CM-AVM syndrome due to RASA1.

Journal: American journal of medical genetics. Part A

Published: January 15, 2020

Health Care for Mitochondrial Disorders in Canada: A Survey of Physicians.

Health Care for Mitochondrial Disorders in Canada: A Survey of Physicians.

Journal: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques

Published: August 08, 2019

Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex 1 deficiency.

Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex 1 deficiency.

Journal: Molecular genetics and metabolism reports

Published: April 04, 2019

Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort.

Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort.

Journal: Journal of inherited metabolic disease

Published: February 12, 2019

Acute pediatric hyperammonemia: current diagnosis and management strategies.

Acute pediatric hyperammonemia: current diagnosis and management strategies.

Journal: Hepatic medicine : evidence and research

Published: September 27, 2018

Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex I deficiency.

Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex I deficiency.

Journal: Molecular genetics and metabolism reports

Published: July 06, 2018

Muscle problems in juvenile-onset acid maltase deficiency (Pompe disease).

Muscle problems in juvenile-onset acid maltase deficiency (Pompe disease).

Journal: Paediatrics & child health

Published: May 09, 2018

Response to Newman et al.

Response to Newman et al.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: December 08, 2017

Showing 1-12 of 27

Last Updated: 09/26/2026