Natalya Karp

London, ON, Canada

Last Updated: 09/26/2026

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Found 24 publications

Navigating the complexity of managing coexisting inborn errors of metabolism and gender incongruence.

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.

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

Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals.

Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals.

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

Published: June 26, 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

Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study.

Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study.

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

Published: April 21, 2023

Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.

Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.

Journal: Clinical genetics

Published: September 25, 2022

A novel case of central hypoventilation syndrome or just heavy breathing?

A novel case of central hypoventilation syndrome or just heavy breathing?

Journal: Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine

Published: June 17, 2022

Expanding the phenotypic and molecular spectrum of NFS1-related disorders that cause functional deficiencies in mitochondrial and cytosolic iron-sulfur cluster containing enzymes.

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

Core Outcome Sets for Medium-Chain Acyl-CoA Dehydrogenase Deficiency and Phenylketonuria.

Core Outcome Sets for Medium-Chain Acyl-CoA Dehydrogenase Deficiency and Phenylketonuria.

Journal: Pediatrics

Published: March 22, 2021

Hyperleucinosis during infections in maple syrup urine disease post liver transplantation.

Hyperleucinosis during infections in maple syrup urine disease post liver transplantation.

Journal: Molecular genetics and metabolism reports

Published: March 01, 2021

Mevalonic Aciduria Associated With Intrahepatic Bile Duct Paucity.

Mevalonic Aciduria Associated With Intrahepatic Bile Duct Paucity.

Journal: Hepatology (Baltimore, Md.)

Published: December 06, 2020

Haploinsufficiency of SF3B2 causes craniofacial microsomia.

Haploinsufficiency of SF3B2 causes craniofacial microsomia.

Journal: Nature communications

Published: November 12, 2020

Showing 1-12 of 24

Last Updated: 09/26/2026