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Judith Meijer

Showing results (21-30 of 31) with videos related to

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Molecular Genetics and Metabolism|February 13, 2022
β-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activityDoreen Dobritzsch, Judith Meijer, Rutger Meinsma, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|December 28, 2016
Severe fluoropyrimidine toxicity due to novel and rare DPYD missense mutations, deletion and genomic amplification affecting DPD activity and mRNA splicingAndré B P van Kuilenburg, Judith Meijer, Dirk Maurer, et al.
Journal of Inherited Metabolic Disease|February 15, 2014
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]Yoko Nakajima, Judith Meijer, Doreen Dobritzsch, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|January 19, 2019
Deficiency of perforin and hCNT1, a novel inborn error of pyrimidine metabolism, associated with a rapidly developing lethal phenotype due to multi-organ failureSandra Pérez-Torras, Aida Mata-Ventosa, Britt Drögemöller, et al.
Biochimica Et Biophysica Acta|April 25, 2012
ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patientsAndré B P van Kuilenburg, Doreen Dobritzsch, Judith Meijer, et al.
Human Genetics|August 31, 2010
Intragenic deletions and a deep intronic mutation affecting pre-mRNA splicing in the dihydropyrimidine dehydrogenase gene as novel mechanisms causing 5-fluorouracil toxicityAndré B P van Kuilenburg, Judith Meijer, Adri N P M Mul, et al.
Human Genetics|March 20, 2009
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)André B P van Kuilenburg, Judith Meijer, Adri N P M Mul, et al.
Biochimica Et Biophysica Acta|April 6, 2010
Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patientsAndré B P van Kuilenburg, Doreen Dobritzsch, Judith Meijer, et al.
JCO Precision Oncology|May 6, 2024
Lethal Capecitabine Toxicity in Patients With Complete Dihydropyrimidine Dehydrogenase Deficiency Due to Ultra-Rare <i>DPYD</i> VariantsAndré B P van Kuilenburg, Marjolein C H Pleunis-van Empel, Rick B Brouwer, et al.
Plos One|May 9, 2017
New advances in DPYD genotype and risk of severe toxicity under capecitabineMarie-Christine Etienne-Grimaldi, Jean-Christophe Boyer, Christophe Beroud, et al.
Pageof 4

Showing results (21-30 of 31) with videos related to

Sort By:
Pageof 4
Molecular Genetics and Metabolism|February 13, 2022
β-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activityDoreen Dobritzsch, Judith Meijer, Rutger Meinsma, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|December 28, 2016
Severe fluoropyrimidine toxicity due to novel and rare DPYD missense mutations, deletion and genomic amplification affecting DPD activity and mRNA splicingAndré B P van Kuilenburg, Judith Meijer, Dirk Maurer, et al.
Journal of Inherited Metabolic Disease|February 15, 2014
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]Yoko Nakajima, Judith Meijer, Doreen Dobritzsch, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|January 19, 2019
Deficiency of perforin and hCNT1, a novel inborn error of pyrimidine metabolism, associated with a rapidly developing lethal phenotype due to multi-organ failureSandra Pérez-Torras, Aida Mata-Ventosa, Britt Drögemöller, et al.
Biochimica Et Biophysica Acta|April 25, 2012
ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patientsAndré B P van Kuilenburg, Doreen Dobritzsch, Judith Meijer, et al.
Human Genetics|August 31, 2010
Intragenic deletions and a deep intronic mutation affecting pre-mRNA splicing in the dihydropyrimidine dehydrogenase gene as novel mechanisms causing 5-fluorouracil toxicityAndré B P van Kuilenburg, Judith Meijer, Adri N P M Mul, et al.
Human Genetics|March 20, 2009
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)André B P van Kuilenburg, Judith Meijer, Adri N P M Mul, et al.
Biochimica Et Biophysica Acta|April 6, 2010
Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patientsAndré B P van Kuilenburg, Doreen Dobritzsch, Judith Meijer, et al.
JCO Precision Oncology|May 6, 2024
Lethal Capecitabine Toxicity in Patients With Complete Dihydropyrimidine Dehydrogenase Deficiency Due to Ultra-Rare <i>DPYD</i> VariantsAndré B P van Kuilenburg, Marjolein C H Pleunis-van Empel, Rick B Brouwer, et al.
Plos One|May 9, 2017
New advances in DPYD genotype and risk of severe toxicity under capecitabineMarie-Christine Etienne-Grimaldi, Jean-Christophe Boyer, Christophe Beroud, et al.
Pageof 4