Alicia J. Chan

Edmonton, AB, Canada

Last Updated: 09/26/2026

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Found 27 publications

Development and validation of a clinical severity score for long-chain fatty acid oxidation disorders using Real-World-Evidence from Canada.

Development and validation of a clinical severity score for long-chain fatty acid oxidation disorders using Real-World-Evidence from Canada.

Journal: Molecular genetics and metabolism

Published: January 08, 2026

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

Genetic landscape of primary mitochondrial diseases in children and adults using molecular genetics and genomic investigations of mitochondrial and nuclear genome.

Genetic landscape of primary mitochondrial diseases in children and adults using molecular genetics and genomic investigations of mitochondrial and nuclear genome.

Journal: Orphanet journal of rare diseases

Published: April 09, 2024

Clinical and biochemical phenotypes, genotypes, and long-term outcomes of individuals with galactosemia type I from a single metabolic genetics center in Alberta.

Clinical and biochemical phenotypes, genotypes, and long-term outcomes of individuals with galactosemia type I from a single metabolic genetics center in Alberta.

Journal: Molecular genetics and metabolism reports

Published: November 10, 2023

Review of clinical trials and guidelines for children and youth with mucopolysaccharidosis: outcome selection and measurement.

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

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

First report of type 2 diabetes mellitus in an adult with 3-hydroxy-3-methylglutaryl coenzyme A lyase deficiency.

First report of type 2 diabetes mellitus in an adult with 3-hydroxy-3-methylglutaryl coenzyme A lyase deficiency.

Journal: Endocrinology, diabetes & metabolism case reports

Published: December 19, 2022

Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study.

Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study.

Journal: Epilepsia

Published: November 02, 2022

Diagnostic yield of clinical exome sequencing in adulthood in medical genetics clinics.

Diagnostic yield of clinical exome sequencing in adulthood in medical genetics clinics.

Journal: American journal of medical genetics. Part A

Published: August 05, 2022

Outcomes of mitochondrial long chain fatty acid oxidation and carnitine defects from a single center metabolic genetics clinic.

Outcomes of mitochondrial long chain fatty acid oxidation and carnitine defects from a single center metabolic genetics clinic.

Journal: Orphanet journal of rare diseases

Published: May 19, 2022

Families' healthcare experiences for children with inherited metabolic diseases: protocol for a mixed methods cohort study.

Families' healthcare experiences for children with inherited metabolic diseases: protocol for a mixed methods cohort study.

Journal: BMJ open

Published: February 23, 2022

Anti-TNF therapy for inflammatory bowel disease in patients with neurodegenerative Niemann-Pick disease Type C.

Anti-TNF therapy for inflammatory bowel disease in patients with neurodegenerative Niemann-Pick disease Type C.

Journal: Wellcome open research

Published: December 23, 2021

Showing 1-12 of 27

Last Updated: 09/26/2026