Kees G. Schoonderwoerd

Rotterdam, ZH, Netherlands

Last Updated: 09/26/2026

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Found 12 publications

Clinical, biochemical and molecular characteristics of malonyl-CoA decarboxylase deficiency and long-term follow-up of nine patients.

Clinical, biochemical and molecular characteristics of malonyl-CoA decarboxylase deficiency and long-term follow-up of nine patients.

Journal: Molecular genetics and metabolism

Published: April 26, 2019

Hexb enzyme deficiency leads to lysosomal abnormalities in radial glia and microglia in zebrafish brain development.

Hexb enzyme deficiency leads to lysosomal abnormalities in radial glia and microglia in zebrafish brain development.

Journal: Glia

Published: January 15, 2019

Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause.

Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause.

Journal: Frontiers in genetics

Published: April 03, 2018

Selection and Characterization of Palmitic Acid Responsive Patients with an OXPHOS Complex I Defect.

Selection and Characterization of Palmitic Acid Responsive Patients with an OXPHOS Complex I Defect.

Journal: Frontiers in molecular neuroscience

Published: August 01, 2017

Decreased mitochondrial respiration in aneurysmal aortas of Fibulin-4 mutant mice is linked to PGC1A regulation.

Decreased mitochondrial respiration in aneurysmal aortas of Fibulin-4 mutant mice is linked to PGC1A regulation.

Journal: Cardiovascular research

Published: July 07, 2017

Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease.

Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease.

Journal: European journal of human genetics : EJHG

Published: December 20, 2016

Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype.

Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype.

Journal: European journal of human genetics : EJHG

Published: November 01, 2016

Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing.

Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing.

Journal: The Journal of pediatrics

Published: August 19, 2016

Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency.

Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency.

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

Published: November 17, 2015

Inherited metabolic disorders: Quality management for laboratory diagnosis.

Inherited metabolic disorders: Quality management for laboratory diagnosis.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: October 09, 2014

Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome.

Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome.

Journal: Brain : a journal of neurology

Published: February 21, 2013

Defective NDUFA9 as a novel cause of neonatally fatal complex I disease.

Defective NDUFA9 as a novel cause of neonatally fatal complex I disease.

Journal: Journal of medical genetics

Published: November 25, 2011

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Last Updated: 09/26/2026