Grant A. Mitchell

Montreal, QC H3T1C5, Canada

Last Updated: 09/26/2026

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Found 86 publications

New cases expand the genotype, phenotype and therapeutic landscape of H syndrome.

New cases expand the genotype, phenotype and therapeutic landscape of H syndrome.

Journal: British journal of haematology

Published: August 20, 2025

Enzymatic synthesis of 3-hydroxyacyl-CoAs of branched-chain amino acid catabolism.

Enzymatic synthesis of 3-hydroxyacyl-CoAs of branched-chain amino acid catabolism.

Journal: Molecular genetics and metabolism

Published: June 05, 2025

Paroxysmal Dyskinesia with a Novel Variant in the Histone 3 Family 3B (H3-3B) Gene.

Paroxysmal Dyskinesia with a Novel Variant in the Histone 3 Family 3B (H3-3B) Gene.

Journal: Movement disorders clinical practice

Published: April 22, 2025

Phosphoinositide Metabolism: Biochemistry, Physiology and Genetic Disorders.

Phosphoinositide Metabolism: Biochemistry, Physiology and Genetic Disorders.

Journal: Journal of inherited metabolic disease

Published: December 23, 2024

From Pancytopenia to Hyperleukocytosis, an Unexpected Presentation of Immune Reconstitution Inflammatory Syndrome in an Infant with Methylmalonic Acidemia.

From Pancytopenia to Hyperleukocytosis, an Unexpected Presentation of Immune Reconstitution Inflammatory Syndrome in an Infant with Methylmalonic Acidemia.

Journal: Children (Basel, Switzerland)

Published: July 10, 2024

Factors Affecting Non-Enzymatic Protein Acylation by trans-3-Methylglutaconyl Coenzyme A.

Factors Affecting Non-Enzymatic Protein Acylation by trans-3-Methylglutaconyl Coenzyme A.

Journal: Metabolites

Published: June 18, 2024

Glycerophospholipids: Roles in Cell Trafficking and Associated Inborn Errors.

Glycerophospholipids: Roles in Cell Trafficking and Associated Inborn Errors.

Journal: Journal of inherited metabolic disease

Published: June 09, 2024

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

Insulin therapy in acute decompensation of holocarboxylase synthetase deficiency with hyperglycemia and ketoacidosis.

Insulin therapy in acute decompensation of holocarboxylase synthetase deficiency with hyperglycemia and ketoacidosis.

Journal: Molecular genetics and metabolism reports

Published: December 20, 2023

TUFM variants lead to white matter abnormalities mimicking multiple sclerosis.

TUFM variants lead to white matter abnormalities mimicking multiple sclerosis.

Journal: European journal of neurology

Published: January 02, 2023

Deciphering a novel complex inversion affecting F8 in a family with severe haemophilia A by optical genome mapping.

Deciphering a novel complex inversion affecting F8 in a family with severe haemophilia A by optical genome mapping.

Journal: Haemophilia : the official journal of the World Federation of Hemophilia

Published: January 02, 2023

An Infant with Bilateral Keratitis: From Infectious to Genetic Diagnosis.

An Infant with Bilateral Keratitis: From Infectious to Genetic Diagnosis.

Journal: The American journal of case reports

Published: November 30, 2022

Showing 1-12 of 86

Last Updated: 09/26/2026