Andrea C. Yu
Ottawa, ON, Canada
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 16 publications
Heritability of Long-Term Complications in Classic Galactosemia.
Journal: Journal of inherited metabolic disease
Published: December 19, 2025
Navigating the complexity of managing coexisting inborn errors of metabolism and gender incongruence.
Journal: Molecular genetics and metabolism
Published: September 20, 2025
Biochemical, Clinical, and Functional Characterization of a Rare c.-106C>A Promoter Region Variant in Late-Onset Ornithine Transcarbamylase Deficiency: A Multifamily Case Series.
Journal: JIMD reports
Published: August 06, 2025
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
Reproductive carrier screening for genetic disorders: position statement of the Canadian College of Medical Geneticists.
Journal: Journal of medical genetics
Published: April 19, 2025
Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 13, 2025
Ocular Findings as the Most Striking Manifestation of a SMAD3 Variant.
Journal: American journal of medical genetics. Part A
Published: September 18, 2024
The diagnostic yield of genetic and metabolic investigations in syndromic and nonsyndromic patients with autism spectrum disorder, global developmental delay, or intellectual disability from a dedicated neurodevelopmental disorders genetics clinic.
Journal: American journal of medical genetics. Part A
Published: March 06, 2024
Methylmalonic aciduria as a biochemical marker for mitochondrial DNA depletion syndrome in patients with developmental delay and movement disorders: a case series.
Journal: Frontiers in neurology
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.
Journal: BMC pediatrics
Published: May 19, 2023
A Novel Homozygous Mutation Causing Complete TYK2 Deficiency, with Severe Respiratory Viral Infections, EBV-Driven Lymphoma, and Jamestown Canyon Viral Encephalitis.
Journal: Journal of clinical immunology
Published: April 17, 2023
Expanding the phenotypic and molecular spectrum of NFS1-related disorders that cause functional deficiencies in mitochondrial and cytosolic iron-sulfur cluster containing enzymes.
Journal: Human mutation
Published: June 21, 2021
Last Updated: 09/26/2026