List of works - Lida Zoetekouw

Altered dihydropyrimidine dehydrogenase activity associated with mild toxicity in patients treated with 5-fluorouracil containing chemotherapy

scientific article published in June 2008

An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life

scientific article published on 9 July 2013

Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3).

scientific article published on 19 March 2009

Arts syndrome is caused by loss-of-function mutations in PRPS1

scientific article

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

scientific article published on 20 September 2017

Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiency.

scientific article

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].

scientific article

Determination of thymidine phosphorylase activity by a non-radiochemical assay using reversed-phase high-performance liquid chromatography

scientific article published in June 2005

Dihydropyrimidinase deficiency and severe 5-fluorouracil toxicity.

scientific article published in October 2003

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

scientific article

Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients.

scientific article published in April 2010

Dihydropyrimidine dehydrogenase deficiency presenting with psychomotor retardation in the first Polish patient.

scientific article

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

scientific article published on 12 August 2014

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.

scientific article

HPLC-electrospray tandem mass spectrometry for rapid determination of dihydropyrimidine dehydrogenase activity

scientific article published on 01 February 2007

High prevalence of the IVS14 + 1G>A mutation in the dihydropyrimidine dehydrogenase gene of patients with severe 5-fluorouracil-associated toxicity

scientific article published in October 2002

Increased dihydropyrimidine dehydrogenase activity associated with mild toxicity in patients treated with 5-fluorouracil and leucovorin

scientific article published on 13 November 2006

Increased risk of grade IV neutropenia after administration of 5-fluorouracil due to a dihydropyrimidine dehydrogenase deficiency: high prevalence of the IVS14+1g>a mutation

scientific article

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

scientific article

Paradoxical elevated thiopurine S-methyltransferase activity after pancytopenia during azathioprine therapy: potential influence of red blood cell age.

scientific article published in June 2008

Phenotypic and clinical implications of variants in the dihydropyrimidine dehydrogenase gene

scientific article published on 12 January 2016

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

scientific article published on 06 September 2019

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?

scientific article

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

scientific article published on 24 December 2016

beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities

scientific journal article

ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients.

scientific article published on 14 April 2012

List of works by Lida Zoetekouw

Altered dihydropyrimidine dehydrogenase activity associated with mild toxicity in patients treated with 5-fluorouracil containing chemotherapy

An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life

Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3).

Arts syndrome is caused by loss-of-function mutations in PRPS1

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

Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiency.

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].

Determination of thymidine phosphorylase activity by a non-radiochemical assay using reversed-phase high-performance liquid chromatography

Dihydropyrimidinase deficiency and severe 5-fluorouracil toxicity.

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

Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients.

Dihydropyrimidine dehydrogenase deficiency presenting with psychomotor retardation in the first Polish patient.

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

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.

HPLC-electrospray tandem mass spectrometry for rapid determination of dihydropyrimidine dehydrogenase activity

High prevalence of the IVS14 + 1G>A mutation in the dihydropyrimidine dehydrogenase gene of patients with severe 5-fluorouracil-associated toxicity

Increased dihydropyrimidine dehydrogenase activity associated with mild toxicity in patients treated with 5-fluorouracil and leucovorin

Increased risk of grade IV neutropenia after administration of 5-fluorouracil due to a dihydropyrimidine dehydrogenase deficiency: high prevalence of the IVS14+1g>a mutation

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

Paradoxical elevated thiopurine S-methyltransferase activity after pancytopenia during azathioprine therapy: potential influence of red blood cell age.

Phenotypic and clinical implications of variants in the dihydropyrimidine dehydrogenase gene

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

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?

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

beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities

ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients.