Sylvia G. Stockler-Ipsiroglu

4480 Oak Street
Vancouver, BC, Canada

Last Updated: 09/26/2026

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Found 65 publications

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

Biallelic variants in BBOX1 cause L-Carnitine deficiency and elevated γ-butyrobetaine.

Biallelic variants in BBOX1 cause L-Carnitine deficiency and elevated γ-butyrobetaine.

Journal: NPJ genomic medicine

Published: March 28, 2025

Establishing a core outcome set for creatine transporter deficiency and guanidinoacetate methyltransferase deficiency.

Establishing a core outcome set for creatine transporter deficiency and guanidinoacetate methyltransferase deficiency.

Journal: Orphanet journal of rare diseases

Published: December 06, 2024

Establishing a Core Outcome Set for Creatine Transporter Deficiency and Guanidinoacetate Methyltransferase Deficiency.

Establishing a Core Outcome Set for Creatine Transporter Deficiency and Guanidinoacetate Methyltransferase Deficiency.

Journal: medRxiv : the preprint server for health sciences

Published: October 07, 2024

Health Care Costs After Genome-Wide Sequencing for Children With Rare Diseases in England and Canada.

Health Care Costs After Genome-Wide Sequencing for Children With Rare Diseases in England and Canada.

Journal: JAMA network open

Published: July 10, 2024

Protein requirements in adults with phenylketonuria and bioavailability of glycomacropeptide compared to an l-amino acid-based product.

Protein requirements in adults with phenylketonuria and bioavailability of glycomacropeptide compared to an l-amino acid-based product.

Journal: Journal of inherited metabolic disease

Published: February 05, 2024

Claudin-11 in health and disease: implications for myelin disorders, hearing, and fertility.

Claudin-11 in health and disease: implications for myelin disorders, hearing, and fertility.

Journal: Frontiers in cellular neuroscience

Published: November 25, 2023

Real-world diagnostic outcomes and cost-effectiveness of genome-wide sequencing for developmental and seizure disorders: Evidence from Canada.

Real-world diagnostic outcomes and cost-effectiveness of genome-wide sequencing for developmental and seizure disorders: Evidence from Canada.

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

Published: July 21, 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

Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy.

Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy.

Journal: Neurology

Published: February 26, 2022

Carnitine deficiency, hearing loss and hydrochlorothiazide-induced diabetes mellitus associated with the recurrent p.Trp85Arg variant in HNF4A.

Carnitine deficiency, hearing loss and hydrochlorothiazide-induced diabetes mellitus associated with the recurrent p.Trp85Arg variant in HNF4A.

Journal: American journal of medical genetics. Part A

Published: January 26, 2022

Determining ideal balance among branched-chain amino acids in medical formula for Propionic Acidemia: A proof of concept study in healthy children.

Determining ideal balance among branched-chain amino acids in medical formula for Propionic Acidemia: A proof of concept study in healthy children.

Journal: Molecular genetics and metabolism

Published: October 22, 2021

Showing 1-12 of 65

Last Updated: 09/26/2026