John J. Mitchell

2300 Tupper Street
Montreal, QC, Canada

Last Updated: 09/26/2026

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Found 74 publications

Phase 3 Randomized Trial Results of DTX401 AAV Gene Therapy for the Treatment of GSDIa.

Phase 3 Randomized Trial Results of DTX401 AAV Gene Therapy for the Treatment of GSDIa.

Journal: Journal of inherited metabolic disease

Published: April 29, 2026

An Intravenous Brain-Penetrant Enzyme Therapy for Mucopolysaccharidosis II.

An Intravenous Brain-Penetrant Enzyme Therapy for Mucopolysaccharidosis II.

Journal: The New England journal of medicine

Published: December 30, 2025

The impacts of caring for children with inherited metabolic diseases for families: a cross-sectional study.

The impacts of caring for children with inherited metabolic diseases for families: a cross-sectional study.

Journal: Orphanet journal of rare diseases

Published: December 09, 2025

Cerebrospinal fluid heparan sulfate as a biomarker for neuronopathic mucopolysaccharidoses: Rationale and regulatory challenges.

Cerebrospinal fluid heparan sulfate as a biomarker for neuronopathic mucopolysaccharidoses: Rationale and regulatory challenges.

Journal: Molecular genetics and metabolism

Published: November 26, 2025

Trial Interviews to Explore Glycogen Storage Disease Type Ia Patient Experiences Following Gene Therapy.

Trial Interviews to Explore Glycogen Storage Disease Type Ia Patient Experiences Following Gene Therapy.

Journal: Journal of health economics and outcomes research

Published: November 14, 2025

Metabolic Control and Frequency of Clinical Monitoring Among Canadian Children With Phenylalanine Hydroxylase Deficiency: A Retrospective Cohort Study.

Metabolic Control and Frequency of Clinical Monitoring Among Canadian Children With Phenylalanine Hydroxylase Deficiency: A Retrospective Cohort Study.

Journal: JIMD reports

Published: June 09, 2025

Long-term outcomes of elosulfase alfa enzyme replacement therapy in adults with MPS IVA: a sub-analysis of the Morquio A Registry Study (MARS).

Long-term outcomes of elosulfase alfa enzyme replacement therapy in adults with MPS IVA: a sub-analysis of the Morquio A Registry Study (MARS).

Journal: Orphanet journal of rare diseases

Published: April 30, 2025

Developing a National Network for Leukodystrophy Research and Care in Canada: The CARELeuko Initiative.

Developing a National Network for Leukodystrophy Research and Care in Canada: The CARELeuko Initiative.

Journal: Neurology. Genetics

Published: April 04, 2025

Safety and Efficacy of DTX401, an AAV8-Mediated Liver-Directed Gene Therapy, in Adults With Glycogen Storage Disease Type I a (GSDIa).

Safety and Efficacy of DTX401, an AAV8-Mediated Liver-Directed Gene Therapy, in Adults With Glycogen Storage Disease Type I a (GSDIa).

Journal: Journal of inherited metabolic disease

Published: October 08, 2024

Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity.

Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity.

Journal: Genome medicine

Published: September 03, 2024

Multi-year enzyme expression in patients with mucopolysaccharidosis type VI after liver-directed gene therapy.

Multi-year enzyme expression in patients with mucopolysaccharidosis type VI after liver-directed gene therapy.

Journal: Med (New York, N.Y.)

Published: August 14, 2024

Current Advances and Material Innovations in the Search for Novel Treatments of Phenylketonuria.

Current Advances and Material Innovations in the Search for Novel Treatments of Phenylketonuria.

Journal: Advanced healthcare materials

Published: April 12, 2024

Showing 1-12 of 74

Last Updated: 09/26/2026