Florin Sasarman

Calgary, AB, Canada

Last Updated: 09/26/2026

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Found 18 publications

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

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

LPIN1 deficiency with severe recurrent rhabdomyolysis and persistent elevation of creatine kinase levels due to chromosome 2 maternal isodisomy.

LPIN1 deficiency with severe recurrent rhabdomyolysis and persistent elevation of creatine kinase levels due to chromosome 2 maternal isodisomy.

Journal: Molecular genetics and metabolism reports

Published: August 07, 2015

Biosynthesis of glycosaminoglycans: associated disorders and biochemical tests.

Biosynthesis of glycosaminoglycans: associated disorders and biochemical tests.

Journal: Journal of inherited metabolic disease

Published: July 07, 2015

Mitochondrial Diseases and Cardiomyopathies.

Mitochondrial Diseases and Cardiomyopathies.

Journal: The Canadian journal of cardiology

Published: July 03, 2015

An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase.

An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase.

Journal: Human molecular genetics

Published: March 02, 2015

The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1.

The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1.

Journal: Human molecular genetics

Published: December 31, 2014

RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement.

RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement.

Journal: European journal of human genetics : EJHG

Published: October 06, 2014

Tissue-specific responses to the LRPPRC founder mutation in French Canadian Leigh Syndrome.

Tissue-specific responses to the LRPPRC founder mutation in French Canadian Leigh Syndrome.

Journal: Human molecular genetics

Published: September 13, 2014

The arginine methyltransferase NDUFAF7 is essential for complex I assembly and early vertebrate embryogenesis.

The arginine methyltransferase NDUFAF7 is essential for complex I assembly and early vertebrate embryogenesis.

Journal: Human molecular genetics

Published: May 20, 2014

Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome.

Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome.

Journal: Human mutation

Published: January 17, 2014

Novel mutations in SCO1 as a cause of fatal infantile encephalopathy and lactic acidosis.

Novel mutations in SCO1 as a cause of fatal infantile encephalopathy and lactic acidosis.

Journal: Human mutation

Published: February 06, 2013

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Last Updated: 09/26/2026