Journal ArticleDOI
Automated screening system for purine and pyrimidine metabolism disorders using high-performance liquid chromatography
TLDR
An automated screening system for purine and pyrimidine metabolism disorders using high-performance liquid chromatography (HPLC) with column switching is described, which offers a useful method for the detection of orotic aciduria, dihydropyrimidine dehydrogenase deficiency, xanthinuria, adenine phosphoribosyltransferase deficiency and adenylosuccinase deficiency.About:
This article is published in Journal of Chromatography B: Biomedical Sciences and Applications.The article was published on 1995-10-20. It has received 54 citations till now. The article focuses on the topics: Purine/pyrimidine metabolism & Orotic aciduria.read more
Citations
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Journal ArticleDOI
Rapid Screening of High-Risk Patients for Disorders of Purine and Pyrimidine Metabolism Using HPLC-Electrospray Tandem Mass Spectrometry of Liquid Urine or Urine-soaked Filter Paper Strips
T Ito,T Ito,André B.P. van Kuilenburg,Albert H. Bootsma,Anja J. Haasnoot,Arno van Cruchten,Yoshiro Wada,Albert H. van Gennip +7 more
TL;DR: HPLC-ESI MS/MS of urine allows rapid screening for disorders of purine and pyrimidine metabolism and the filter paper strips offer the advantage of easy collection, transport, and storage of the urine samples.
Journal ArticleDOI
Dose monitoring of 5-fluorouracil in patients with colorectal or head and neck cancer--status of the art.
TL;DR: Leucovorin (LV), used as 5-FU biomodulator, has improved its results in colorectal cancer, in terms of response as well as survival, however, in head and neck cancers, though pilot and randomised studies have shown consistent beneficial impact on response, no gain has been obtained on survival.
Journal ArticleDOI
DPD-based adaptive dosing of 5-FU in patients with head and neck cancer: impact on treatment efficacy and toxicity
Chen Guang Yang,Joseph Ciccolini,A. Blesius,Laetitia Dahan,Danielle Bagarry-Liegey,Caroline Brunet,Arthur Varoquaux,Nicolas Frances,Hafedh Marouani,Antoine Giovanni,Rose-Marie Ferri-Dessens,Mohamed Chefrour,Roger Favre,Florence Duffaud,Jean-François Seitz,M. Zanaret,Bruno Lacarelle,Cédric Mercier +17 more
TL;DR: The preliminary results thus advocate for systematic DPD screening in patients eligible for treatment with fluoropyrimidine drugs in HNC, and suggest that prospective determination of DPD status has an immediate clinical benefit by reducing the drug-induced toxicities incidence in patients treated with 5-FU.
Journal Article
Identification of Novel Mutations in the Dihydropyrimidine Dehydrogenase Gene in a Japanese Patient with 5-Fluorouracil Toxicity'
M Kouwaki,Naoki Hamajima,Satoshi Sumi,Masaru Nonaka,M Sasaki,K Dobashi,Kiyoshi Kidouchi,H Togari,Y Wada +8 more
TL;DR: The present data represent the first molecular genetic analysis of DPD deficiency accompanied by severe 5-FU toxicity in a Japanese patient and her family and reveal that Arg21Gln and Glu386Ter are on the same allele and that Val335Leu is on the other allele, on the basis of analysis of the family genome.
Journal ArticleDOI
Evaluation of predictive tests for screening for dihydropyrimidine dehydrogenase deficiency
TL;DR: An overview of the tests that can be used to detect DPD deficiency are given and the advantages and disadvantages of these tests are discussed.
References
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Journal Article
Dihydropyrimidine Dehydrogenase Activity in Human Peripheral Blood Mononuclear Cells and Liver: Population Characteristics, Newly Identified Deficient Patients, and Clinical Implication in 5-Fluorouracil Chemotherapy
TL;DR: A sensitive, accurate, and precise DPD assay and a storage method to stabilize DPD activity are developed, permitting large scale DPD screening in cancer patients and a normal distribution (Gaussian distribution) of human D PD activity from peripheral blood mononuclear cells (PBM-DPD) in a population study.
Journal ArticleDOI
An infantile autistic syndrome characterised by the presence of succinylpurines in body fluids
JaakJaeken Georges,VanDen Berghe +1 more
TL;DR: Succinyladenosine and succinylaminoimidazole carboxamide riboside were found in body fluids from 3 children, including a brother and sister, with severe psychomotor delay and autism.
Journal Article
An Infantile Autistic Syndrome Characterized By the Presence of Succinyl Purines in Body-fluids
TL;DR: The accumulation of both succinylpurines in the cerebrospinal fluid suggests that there is also a deficiency of this enzyme in the brain and that it may be the basic defect in a subgroup of children with genetically determined autism.
Journal Article
Hereditary orotic aciduria: ii. a urinary screening test
Lon E. Rogers,F. Stanley Porter +1 more
TL;DR: A urinary screening test for hereditary orotic aciduria is described in this paper, which is based upon the conversion of OO to barbituric acid by the action of saturated bromine water and subsequent reduction by ascorbic acid.
Journal ArticleDOI
Severe 5-Fluorouracil Toxicity in a Patient with Decreased Dihydropyrimidine Dehydrogenase Activity
TL;DR: In this paper, severe 5fluorouracil toxicity in a patient with decreased Dihydropyrimidine dehydrogenase activity was investigated, and the results showed that 5fluoro-fluoroacil was associated with increased toxicity.