Charles A. Rupar
London, ON, Canada
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 61 publications
Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1-Related Autosomal Recessive Disorder Associated With Usher-Like Symptoms.
Journal: American journal of medical genetics. Part A
Published: January 02, 2026
Navigating the complexity of managing coexisting inborn errors of metabolism and gender incongruence.
Journal: Molecular genetics and metabolism
Published: September 20, 2025
Newborn screening for common genetic variants associated with permanent hearing loss: Implementation in Ontario and a review of the first 3 years.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 09, 2025
Ambroxol as a Treatment for Parkinson Disease Dementia: A Randomized Clinical Trial.
Journal: JAMA neurology
Published: June 30, 2025
Long Term Follow up of Short-Chain-L-3-Hydroxyacyl-CoA Dehydrogenase (SCHAD) Deficiency Causing Hypoglycemia and Developmental Delays in Two Syrian Brothers.
Journal: Indian journal of pediatrics
Published: February 26, 2025
Outcome of two siblings with late-onset Krabbe disease following allogeneic hematopoietic stem cell transplantation: And review of literature.
Journal: Molecular genetics and metabolism reports
Published: February 13, 2025
Metabolomic signature of pediatric diabetic ketoacidosis: key metabolites, pathways, and panels linked to clinical variables.
Journal: Molecular medicine (Cambridge, Mass.)
Published: October 11, 2024
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
Lentivirus-mediated gene therapy for Fabry disease: 5-year End-of-Study results from the Canadian FACTs trial.
Journal: Clinical and translational medicine
Published: July 27, 2024
Newborn screening for common genetic variants associated with permanent hearing loss: Implementation in Ontario and review of the first 3 years.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 07, 2024
Severe Developmental Delay and Behavior Abnormalities in a Patient with De Novo CAMK2B Mutation: A Case Report and Literature Review.
Journal: Annals of Indian Academy of Neurology
Published: February 20, 2024
Review of clinical trials and guidelines for children and youth with mucopolysaccharidosis: outcome selection and measurement.
Journal: Orphanet journal of rare diseases
Published: November 08, 2023
Last Updated: 09/26/2026