Rene M. De Coo

Rotterdam, ZH, Netherlands

Last Updated: 09/26/2026

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Found 15 publications

Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants.

Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants.

Journal: Neurology. Genetics

Published: November 20, 2023

A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening.

A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening.

Journal: International journal of neonatal screening

Published: September 10, 2023

The impact of gender, puberty, and pregnancy in patients with POLG disease.

The impact of gender, puberty, and pregnancy in patients with POLG disease.

Journal: Annals of clinical and translational neurology

Published: July 16, 2020

Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients.

Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients.

Journal: Clinical genetics

Published: January 01, 2019

Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene.

Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene.

Journal: American journal of medical genetics. Part A

Published: December 12, 2016

International Paediatric Mitochondrial Disease Scale.

International Paediatric Mitochondrial Disease Scale.

Journal: Journal of inherited metabolic disease

Published: February 23, 2016

Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.

Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.

Journal: Journal of inherited metabolic disease

Published: July 03, 2015

Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia.

Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia.

Journal: Molecular genetics and metabolism

Published: October 09, 2014

The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.

The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.

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

Published: September 26, 2014

Reply: Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease.

Reply: Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease.

Journal: Brain : a journal of neurology

Published: June 01, 2014

Severe presentation of WDR62 mutation: is there a role for modifying genetic factors?

Severe presentation of WDR62 mutation: is there a role for modifying genetic factors?

Journal: American journal of medical genetics. Part A

Published: July 16, 2013

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

Showing 1-12 of 15

Last Updated: 09/26/2026