Dihydropyrimidine Dehydrogenase Deficiency: Homozygosity for an Extremely Rare Variant in DPYD due to Uniparental Isodisomy of Chromosome 1-Reference-Cited by-同舟云学术

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

Published:2018 Issue: Volume: Page:65-69
ISSN:2192-8304
Container-title:JIMD Reports
language:
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Author:

van Kuilenburg André B. P.,Meijer Judith,Meinsma Rutger,Pérez-Dueñas Belén,Alders Marielle,Bhuiyan Zahurul A.,Artuch Rafael,Hennekam Raoul C. M.

Publisher

Springer Berlin Heidelberg

Link

http://link.springer.com/content/pdf/10.1007/8904_2018_138

Reference13 articles.

1. Chen BC, Mohd Rawi R, Meinsma R, Meijer J, Hennekam RC, van Kuilenburg AB (2014) Dihydropyrimidine dehydrogenase deficiency in two Malaysian siblings with abnormal MRI findings. Mol Syndromol 5(6):299–303

2. Enns GM, Barkovich AJ, van Kuilenburg ABP et al (2004) Head imaging abnormalities in dihydropyrimidine dehydrogenase deficiency. J Inherit Metab Dis 27(4):513–522

3. Fleger M, Willomitzer J, Meinsma R et al (2017) Dihydropyrimidine dehydrogenase deficiency: metabolic disease or biochemical phenotype? JIMD Rep 37:49–54

4. Johnson MR, Diasio RB (2001) Importance of dihydropyrimidine dehydrogenase (DPD) deficiency in patients exhibiting toxicity following treatment with 5-fluorouracil. Adv Enzyme Regul 41:151–157

5. Liehr T (2010) Cytogenetic contribution to uniparental disomy (UPD). Mol Cytogenet 3:8

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1. Spotlight on plasticity-related genes: Current insights in health and disease;Pharmacology & Therapeutics;2024-08

2. Review of Neurologic and Developmental Conditions Associated with Pediatric Dihydropyrimidine Dehydrogenase Deficiency;Advances in Molecular Pathology;2024-08

3. Focal Neurotoxicity Associated With Topical 5-Fluorouracil;Cureus;2024-02-17

4. Fluoropyrimidine-Induced Severe Toxicities Associated with Rare DPYD Polymorphisms: Case Series from Saudi Arabia and a Review of the Literature;Clinics and Practice;2021-07-27

5. DPD status and fluoropyrimidines-based treatment: high activity matters too;BMC Cancer;2020-05-18

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