Lida Zoetekouw

Amsterdam, NH, Netherlands

Last Updated: 09/26/2026

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Found 10 publications

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

Plasma dopa decarboxylase activity in treatment-resistant recent-onset psychosis patients.

Plasma dopa decarboxylase activity in treatment-resistant recent-onset psychosis patients.

Journal: Therapeutic advances in psychopharmacology

Published: February 13, 2019

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

Capecitabine-based treatment of a patient with a novel DPYD genotype and complete dihydropyrimidine dehydrogenase deficiency.

Capecitabine-based treatment of a patient with a novel DPYD genotype and complete dihydropyrimidine dehydrogenase deficiency.

Journal: International journal of cancer

Published: July 06, 2017

Severe fluoropyrimidine toxicity due to novel and rare DPYD missense mutations, deletion and genomic amplification affecting DPD activity and mRNA splicing.

Severe fluoropyrimidine toxicity due to novel and rare DPYD missense mutations, deletion and genomic amplification affecting DPD activity and mRNA splicing.

Journal: Biochimica et biophysica acta. Molecular basis of disease

Published: November 02, 2016

Phenotypic and clinical implications of variants in the dihydropyrimidine dehydrogenase gene.

Phenotypic and clinical implications of variants in the dihydropyrimidine dehydrogenase gene.

Journal: Biochimica et biophysica acta

Published: October 21, 2015

Novel Genetic Mutations in the First Swedish Patient with Purine Nucleoside Phosphorylase Deficiency and Clinical Outcome After Hematopoietic Stem Cell Transplantation with HLA-Matched Unrelated Donor.

Novel Genetic Mutations in the First Swedish Patient with Purine Nucleoside Phosphorylase Deficiency and Clinical Outcome After Hematopoietic Stem Cell Transplantation with HLA-Matched Unrelated Donor.

Journal: JIMD reports

Published: February 19, 2015

Report of two never treated adult sisters with aromatic L-amino Acid decarboxylase deficiency: a portrait of the natural history of the disease or an expanding phenotype?

Report of two never treated adult sisters with aromatic L-amino Acid decarboxylase deficiency: a portrait of the natural history of the disease or an expanding phenotype?

Journal: JIMD reports

Published: December 12, 2013

Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation [corrected].

Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation [corrected].

Journal: Journal of inherited metabolic disease

Published: August 27, 2013

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Last Updated: 09/26/2026