David S. Sinasac

Calgary, AB, Canada

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 17 publications

A novel therapy for pyridoxine-dependent epilepsy due to biallelic pathogenic variants in ALDH7A1: secondary mitochondrial energy deficiency and improvements of neurodevelopmental outcomes on triheptanoin treatment.

A novel therapy for pyridoxine-dependent epilepsy due to biallelic pathogenic variants in ALDH7A1: secondary mitochondrial energy deficiency and improvements of neurodevelopmental outcomes on triheptanoin treatment.

Journal: Therapeutic advances in rare disease

Published: April 06, 2025

Altered Fibroblast Glutamine Metabolism Is Linked to the Severity of Cardiac Dysfunction in DCMA, a Mitochondrial Cardiomyopathy.

Altered Fibroblast Glutamine Metabolism Is Linked to the Severity of Cardiac Dysfunction in DCMA, a Mitochondrial Cardiomyopathy.

Journal: Journal of inherited metabolic disease

Published: November 25, 2024

3-Hydroxyisobutyric acid dehydrogenase deficiency: Expanding the clinical spectrum and quantitation of D- and L-3-Hydroxyisobutyric acid by an LC-MS/MS method.

3-Hydroxyisobutyric acid dehydrogenase deficiency: Expanding the clinical spectrum and quantitation of D- and L-3-Hydroxyisobutyric acid by an LC-MS/MS method.

Journal: Journal of inherited metabolic disease

Published: December 17, 2021

Phenotype and pathology of the dilated cardiomyopathy with ataxia syndrome in children.

Phenotype and pathology of the dilated cardiomyopathy with ataxia syndrome in children.

Journal: Journal of inherited metabolic disease

Published: July 05, 2021

SS-31 Peptide Reverses the Mitochondrial Fragmentation Present in Fibroblasts From Patients With DCMA, a Mitochondrial Cardiomyopathy.

SS-31 Peptide Reverses the Mitochondrial Fragmentation Present in Fibroblasts From Patients With DCMA, a Mitochondrial Cardiomyopathy.

Journal: Frontiers in cardiovascular medicine

Published: June 16, 2019

Characterization of the C584R variant in the mtDNA depletion syndrome gene FBXL4, reveals a novel role for FBXL4 as a regulator of mitochondrial fusion.

Characterization of the C584R variant in the mtDNA depletion syndrome gene FBXL4, reveals a novel role for FBXL4 as a regulator of mitochondrial fusion.

Journal: Biochimica et biophysica acta. Molecular basis of disease

Published: March 01, 2019

Transiently elevated plasma methionine, S-adenosylmethionine and S-adenosylhomocysteine: Unreported laboratory findings in a patient with NGLY1 deficiency, a congenital disorder of deglycosylation.

Transiently elevated plasma methionine, S-adenosylmethionine and S-adenosylhomocysteine: Unreported laboratory findings in a patient with NGLY1 deficiency, a congenital disorder of deglycosylation.

Journal: JIMD reports

Published: February 26, 2019

D-2-hydroxyglutaric aciduria in a patient with speech delay due to a novel homozygous deletion in the D2HGDH gene.

D-2-hydroxyglutaric aciduria in a patient with speech delay due to a novel homozygous deletion in the D2HGDH gene.

Journal: Molecular genetics and metabolism reports

Published: February 24, 2019

PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes.

PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes.

Journal: Life science alliance

Published: February 20, 2019

Hybrid gel electrophoresis using skin fibroblasts to aid in diagnosing mitochondrial disease.

Hybrid gel electrophoresis using skin fibroblasts to aid in diagnosing mitochondrial disease.

Journal: Neurology. Genetics

Published: November 28, 2018

Pivotal role of inter-organ aspartate metabolism for treatment of mitochondrial aspartate-glutamate carrier 2 (citrin) deficiency, based on the mouse model.

Pivotal role of inter-organ aspartate metabolism for treatment of mitochondrial aspartate-glutamate carrier 2 (citrin) deficiency, based on the mouse model.

Journal: Scientific reports

Published: April 03, 2018

ALG9-CDG: New clinical case and review of the literature.

ALG9-CDG: New clinical case and review of the literature.

Journal: Molecular genetics and metabolism reports

Published: May 15, 2017

Showing 1-12 of 17

Last Updated: 09/26/2026