Heleen Te Brinke

Amsterdam, NH, Netherlands

Last Updated: 09/26/2026

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Found 16 publications

Glyoxylate reductase: Definitive identification in human liver mitochondria, its importance for the compartment-specific detoxification of glyoxylate.

Glyoxylate reductase: Definitive identification in human liver mitochondria, its importance for the compartment-specific detoxification of glyoxylate.

Journal: Journal of inherited metabolic disease

Published: March 08, 2023

Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.

Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.

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

Published: October 20, 2021

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.

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

Published: July 24, 2020

Increased protein propionylation contributes to mitochondrial dysfunction in liver cells and fibroblasts, but not in myotubes.

Increased protein propionylation contributes to mitochondrial dysfunction in liver cells and fibroblasts, but not in myotubes.

Journal: Journal of inherited metabolic disease

Published: April 09, 2020

A mutation creating an upstream translation initiation codon in SLC22A5 5'UTR is a frequent cause of primary carnitine deficiency.

A mutation creating an upstream translation initiation codon in SLC22A5 5'UTR is a frequent cause of primary carnitine deficiency.

Journal: Human mutation

Published: April 29, 2019

Processing of mutant N-acetyl-α-glucosaminidase in mucopolysaccharidosis type IIIB fibroblasts cultured at low temperature.

Processing of mutant N-acetyl-α-glucosaminidase in mucopolysaccharidosis type IIIB fibroblasts cultured at low temperature.

Journal: Molecular genetics and metabolism

Published: May 10, 2017

Prediction of phenotypic severity in mucopolysaccharidosis type IIIA.

Prediction of phenotypic severity in mucopolysaccharidosis type IIIA.

Journal: Annals of neurology

Published: April 07, 2017

Proteomic and Biochemical Studies of Lysine Malonylation Suggest Its Malonic Aciduria-associated Regulatory Role in Mitochondrial Function and Fatty Acid Oxidation.

Proteomic and Biochemical Studies of Lysine Malonylation Suggest Its Malonic Aciduria-associated Regulatory Role in Mitochondrial Function and Fatty Acid Oxidation.

Journal: Molecular & cellular proteomics : MCP

Published: February 06, 2015

Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria.

Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria.

Journal: Journal of inherited metabolic disease

Published: January 30, 2015

Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia.

Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia.

Journal: Human molecular genetics

Published: May 22, 2014

Mitochondrial protein acetylation is driven by acetyl-CoA from fatty acid oxidation.

Mitochondrial protein acetylation is driven by acetyl-CoA from fatty acid oxidation.

Journal: Human molecular genetics

Published: February 12, 2014

Aberrant protein acylation is a common observation in inborn errors of acyl-CoA metabolism.

Aberrant protein acylation is a common observation in inborn errors of acyl-CoA metabolism.

Journal: Journal of inherited metabolic disease

Published: December 13, 2013

Showing 1-12 of 16

Last Updated: 09/26/2026