List of works - Catherine Brunel-Guitton

A Highly Diverse Portrait: Heterogeneity of Neuropsychological Profiles in cblC Defect.

scientific article

An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase.

scientific article published on 24 April 2015

Atypical juvenile presentation of GM2 gangliosidosis AB in a patient compound-heterozygote for c.259G > T and c.164C > T mutations in the GM2A gene.

scientific article

Biosynthesis of glycosaminoglycans: associated disorders and biochemical tests

scientific article published on 21 December 2015

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

scientific article published on 01 January 2019

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

scientific article published on 30 April 2019

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

scientific article published on 18 January 2019

De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy

scientific article published on 27 November 2014

Fulminant Necrotizing Enterocolitis and Multiple Organ Dysfunction in a Toddler with Mitochondrial DNA Depletion Syndrome-13

scientific article published on 10 October 2019

Glutaric Aciduria Type 3: Three Unrelated Canadian Cases, with Different Routes of Ascertainment.

scientific article published on 2 August 2017

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

scientific article published on 01 November 2019

Inborn errors of cytoplasmic triglyceride metabolism.

scientific article

LPIN1 deficiency with severe recurrent rhabdomyolysis and persistent elevation of creatine kinase levels due to chromosome 2 maternal isodisomy.

scientific article

Mitochondrial Diseases and Cardiomyopathies

scientific article

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

scientific article published on 08 May 2019

Normal Cerebrospinal Fluid Pyridoxal 5'-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic Encephalopathy.

scientific article published on 12 March 2015

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

scientific article

Premature Ovarian Failure in French Canadian Leigh Syndrome

scientific article published on 08 March 2017

Reply

Response to Newman et al.

scientific article

The Québec NTBC Study.

scientific article published in January 2017

List of works by Catherine Brunel-Guitton

A Highly Diverse Portrait: Heterogeneity of Neuropsychological Profiles in cblC Defect.

An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase.

Atypical juvenile presentation of GM2 gangliosidosis AB in a patient compound-heterozygote for c.259G > T and c.164C > T mutations in the GM2A gene.

Biosynthesis of glycosaminoglycans: associated disorders and biochemical tests

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

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 I deficiency

De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy

Fulminant Necrotizing Enterocolitis and Multiple Organ Dysfunction in a Toddler with Mitochondrial DNA Depletion Syndrome-13

Glutaric Aciduria Type 3: Three Unrelated Canadian Cases, with Different Routes of Ascertainment.

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

Inborn errors of cytoplasmic triglyceride metabolism.

LPIN1 deficiency with severe recurrent rhabdomyolysis and persistent elevation of creatine kinase levels due to chromosome 2 maternal isodisomy.

Mitochondrial Diseases and Cardiomyopathies

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

Normal Cerebrospinal Fluid Pyridoxal 5'-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic Encephalopathy.

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

Premature Ovarian Failure in French Canadian Leigh Syndrome

Reply

Response to Newman et al.

The Québec NTBC Study.