Rutger Meinsma

Amsterdam, NH, Netherlands

Last Updated: 09/26/2026

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Found 22 publications

The impact of cardiovascular risk factors in non-classical Fabry disease.

The impact of cardiovascular risk factors in non-classical Fabry disease.

Journal: Orphanet journal of rare diseases

Published: December 03, 2025

Lethal Capecitabine Toxicity in Patients With Complete Dihydropyrimidine Dehydrogenase Deficiency Due to Ultra-Rare DPYD Variants.

Lethal Capecitabine Toxicity in Patients With Complete Dihydropyrimidine Dehydrogenase Deficiency Due to Ultra-Rare DPYD Variants.

Journal: JCO precision oncology

Published: May 06, 2024

CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders.

CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders.

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

Published: July 25, 2023

Urinary 3-Methoxytyramine Is a Biomarker for MYC Activity in Patients With Neuroblastoma.

Urinary 3-Methoxytyramine Is a Biomarker for MYC Activity in Patients With Neuroblastoma.

Journal: JCO precision oncology

Published: January 27, 2022

β-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activity.

β-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activity.

Journal: Molecular genetics and metabolism

Published: October 20, 2021

Thrombocytopenia after meta-iodobenzylguanidine (MIBG) therapy in neuroblastoma patients may be caused by selective MIBG uptake via the serotonin transporter located on megakaryocytes.

Thrombocytopenia after meta-iodobenzylguanidine (MIBG) therapy in neuroblastoma patients may be caused by selective MIBG uptake via the serotonin transporter located on megakaryocytes.

Journal: EJNMMI research

Published: June 20, 2021

Selective serotonin reuptake inhibitors (SSRIs) prevent meta-iodobenzylguanidine (MIBG) uptake in platelets without affecting neuroblastoma tumor uptake.

Selective serotonin reuptake inhibitors (SSRIs) prevent meta-iodobenzylguanidine (MIBG) uptake in platelets without affecting neuroblastoma tumor uptake.

Journal: EJNMMI research

Published: January 02, 2020

Deficiency of perforin and hCNT1, a novel inborn error of pyrimidine metabolism, associated with a rapidly developing lethal phenotype due to multi-organ failure.

Deficiency of perforin and hCNT1, a novel inborn error of pyrimidine metabolism, associated with a rapidly developing lethal phenotype due to multi-organ failure.

Journal: Biochimica et biophysica acta. Molecular basis of disease

Published: August 17, 2018

Dihydropyrimidine Dehydrogenase Deficiency: Homozygosity for an Extremely Rare Variant in DPYD due to Uniparental Isodisomy of Chromosome 1.

Dihydropyrimidine Dehydrogenase Deficiency: Homozygosity for an Extremely Rare Variant in DPYD due to Uniparental Isodisomy of Chromosome 1.

Journal: JIMD reports

Published: July 23, 2018

Genome sequencing reveals a novel genetic mechanism underlying dihydropyrimidine dehydrogenase deficiency: A novel missense variant c.1700G>A and a large intragenic inversion in DPYD spanning intron 8 to intron 12.

Genome sequencing reveals a novel genetic mechanism underlying dihydropyrimidine dehydrogenase deficiency: A novel missense variant c.1700G>A and a large intragenic inversion in DPYD spanning intron 8 to intron 12.

Journal: Human mutation

Published: December 04, 2017

Dihydropyrimidinase deficiency in four East Asian patients due to novel and rare DPYS mutations affecting protein structural integrity and catalytic activity.

Dihydropyrimidinase deficiency in four East Asian patients due to novel and rare DPYS mutations affecting protein structural integrity and catalytic activity.

Journal: Molecular genetics and metabolism

Published: September 05, 2017

Purification, activity, and expression levels of two uridine-cytidine kinase isoforms in neuroblastoma cell lines.

Purification, activity, and expression levels of two uridine-cytidine kinase isoforms in neuroblastoma cell lines.

Journal: Nucleosides, nucleotides & nucleic acids

Published: December 02, 2016

Showing 1-12 of 22

Last Updated: 09/26/2026