Clara D. Van Karnebeek

950 West 28th Avenue, V5Z 4H4
Vancouver, BC, Canada

Last Updated: 09/26/2026

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Found 280 publications

Corrigendum to "Glutaminase deficiency provides insight to the role of glutamine accumulation and neurotoxicity" [Mol. Genet. Metab. 148(2) (2026) 109906].

Corrigendum to "Glutaminase deficiency provides insight to the role of glutamine accumulation and neurotoxicity" [Mol. Genet. Metab. 148(2) (2026) 109906].

Journal: Molecular genetics and metabolism

Published: June 08, 2026

Human germline biallelic loss-of-function OSMR variants cause severe allergic disease.

Human germline biallelic loss-of-function OSMR variants cause severe allergic disease.

Journal: Journal of human immunity

Published: April 15, 2026

Erratum to "Glutaminase deficiency provides insight to the role of glutamine accumulation and neurotoxicity" [Mol Genet Metab. (2026) Vol. 148 Issue 2 109906].

Erratum to "Glutaminase deficiency provides insight to the role of glutamine accumulation and neurotoxicity" [Mol Genet Metab. (2026) Vol. 148 Issue 2 109906].

Journal: Molecular genetics and metabolism

Published: April 07, 2026

NKX2-1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea.

NKX2-1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: March 27, 2026

Clinical and biochemical footprints of inherited cofactor disorders.

Clinical and biochemical footprints of inherited cofactor disorders.

Journal: Molecular genetics and metabolism

Published: March 14, 2026

An Optimized Diagnostic Approach for Adults With Suspected Inherited Metabolic Disorders.

An Optimized Diagnostic Approach for Adults With Suspected Inherited Metabolic Disorders.

Journal: Journal of inherited metabolic disease

Published: February 10, 2026

Cellular homeostasis of N-acetylneuraminic acid and non-canonical sialic acids is mediated by human N-acetylneuraminate lyase.

Cellular homeostasis of N-acetylneuraminic acid and non-canonical sialic acids is mediated by human N-acetylneuraminate lyase.

Journal: Glycobiology

Published: January 24, 2026

Glutaminase deficiency provides insight to the role of glutamine accumulation and neurotoxicity.

Glutaminase deficiency provides insight to the role of glutamine accumulation and neurotoxicity.

Journal: Molecular genetics and metabolism

Published: January 21, 2026

Case Report: Epidermal growth factor receptor germline variant associated with epilepsy and rare, distinctive cerebral MRI abnormalities.

Case Report: Epidermal growth factor receptor germline variant associated with epilepsy and rare, distinctive cerebral MRI abnormalities.

Journal: Frontiers in radiology

Published: January 07, 2026

Serum NfL, GFAP, and p-tau217 in adults with drug-resistant epilepsy and intellectual disabilities: Signs of ongoing neural injury.

Serum NfL, GFAP, and p-tau217 in adults with drug-resistant epilepsy and intellectual disabilities: Signs of ongoing neural injury.

Journal: Epilepsia

Published: December 23, 2025

Long-Term Follow-Up of Patients With Mitochondrial Carbonic Anhydrase VA Deficiency. A Case Report and Literature Review.

Long-Term Follow-Up of Patients With Mitochondrial Carbonic Anhydrase VA Deficiency. A Case Report and Literature Review.

Journal: JIMD reports

Published: November 28, 2025

Adaptive and cognitive trajectories in adults with drug-resistant epilepsy and intellectual disabilities.

Adaptive and cognitive trajectories in adults with drug-resistant epilepsy and intellectual disabilities.

Journal: Epilepsy & behavior : E&B

Published: November 03, 2025

Showing 1-12 of 280

Last Updated: 09/26/2026