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    Results: 16

    1.

    Reversible leukoencephalopathy with stroke-like presentation in a patient with 5-dihydropyrimidine dehydrogenase deficiency treated with continuous 5-fluorouracil infusion.

    Li J, Lee JJ, Chu E, Baehring JM.

    Clin Colorectal Cancer. 2012 Sep;11(3):215-7. doi: 10.1016/j.clcc.2012.01.004. Epub 2012 Mar 10. No abstract available.

    PMID:
    22410472
    [PubMed - indexed for MEDLINE]
    2.

    Dual diagnosis of dihydropyrimidine dehydrogenase deficiency and GM₁ gangliosidosis.

    Ong MT, Chow GC, Morton RE.

    Pediatr Neurol. 2012 Mar;46(3):178-81. doi: 10.1016/j.pediatrneurol.2011.12.005. Erratum in: Pediatr Neurol. 2012 May;46(5):336.

    PMID:
    22353294
    [PubMed - indexed for MEDLINE]
    3.

    Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability.

    Willemsen MH, Vallès A, Kirkels LA, Mastebroek M, Olde Loohuis N, Kos A, Wissink-Lindhout WM, de Brouwer AP, Nillesen WM, Pfundt R, Holder-Espinasse M, Vallée L, Andrieux J, Coppens-Hofman MC, Rensen H, Hamel BC, van Bokhoven H, Aschrafi A, Kleefstra T.

    J Med Genet. 2011 Dec;48(12):810-8. doi: 10.1136/jmedgenet-2011-100294. Epub 2011 Oct 15.

    PMID:
    22003227
    [PubMed - indexed for MEDLINE]
    4.

    A mild phenotype of dihydropyrimidine dehydrogenase deficiency and developmental retardation associated with a missense mutation affecting cofactor binding.

    Weidensee S, Goettig P, Bertone M, Haas D, Magdolen V, Kiechle M, Meindl A, van Kuilenburg AB, Gross E.

    Clin Biochem. 2011 Jun;44(8-9):722-4. doi: 10.1016/j.clinbiochem.2011.03.033. Epub 2011 Mar 21.

    PMID:
    21420945
    [PubMed - indexed for MEDLINE]
    5.

    A bilateral cicatricial ectropion and bilateral upper lid shortening caused by 5-fluorouracil toxicity in a patient with dihydropyrimidine dehydrogenase deficiency.

    Obi EE, McDonald A, Kemp E.

    Cutan Ocul Toxicol. 2011 Jun;30(2):157-9. doi: 10.3109/15569527.2010.532846. Epub 2010 Nov 16.

    PMID:
    21077799
    [PubMed - indexed for MEDLINE]
    6.

    Dihydropyrimidine dehydrogenase deficiency caused by a novel genomic deletion c.505_513del of DPYD.

    van Kuilenburg AB, Meijer J, Gökcay G, Baykal T, Rubio-Gozalbo ME, Mul AN, de Die-Smulders CE, Weber P, Mori AC, Bierau J, Fowler B, Macke K, Sass JO, Meinsma R, Hennermann JB, Miny P, Zoetekouw L, Roelofsen J, Vijzelaar R, Nicolai J, Hennekam RC.

    Nucleosides Nucleotides Nucleic Acids. 2010 Jun;29(4-6):509-14. doi: 10.1080/15257771003730227.

    PMID:
    20544545
    [PubMed - indexed for MEDLINE]
    7.

    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).

    van Kuilenburg AB, Meijer J, Mul AN, Hennekam RC, Hoovers JM, de Die-Smulders CE, Weber P, Mori AC, Bierau J, Fowler B, Macke K, Sass JO, Meinsma R, Hennermann JB, Miny P, Zoetekouw L, Vijzelaar R, Nicolai J, Ylstra B, Rubio-Gozalbo ME.

    Hum Genet. 2009 Jun;125(5-6):581-90. doi: 10.1007/s00439-009-0653-6. Epub 2009 Mar 19.

    PMID:
    19296131
    [PubMed - indexed for MEDLINE]
    8.

    Encephalopathy secondary to capecitabine chemotherapy: a case report and discussion.

    Tipples K, Kolluri RB, Raouf S.

    J Oncol Pharm Pract. 2009 Dec;15(4):237-9. doi: 10.1177/1078155209102511. Epub .

    PMID:
    19276137
    [PubMed - indexed for MEDLINE]
    9.

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

    Mazur A, Figurski S, Płoskoń A, Meijer J, Zoetekouw L, Watróbska S, Sykut-Cegielska J, Gradowska W, van Kuilenburg AB.

    Acta Biochim Pol. 2008;55(4):787-90. Epub 2008 Dec 16.

    PMID:
    19081848
    [PubMed - indexed for MEDLINE]
    Free Article
    10.

    The dihydrouracil/uracil ratio in plasma, clinical and genetic analysis for screening of dihydropyrimidine dehydrogenase deficiency in colorectal cancer patients treated with 5-fluorouracil.

    Ben Fredj R, Gross E, Ben Ahmed S, Hassine H, Saguem S.

    Pathol Biol (Paris). 2009 Sep;57(6):470-6. doi: 10.1016/j.patbio.2008.05.001. Epub 2008 Jul 10.

    PMID:
    18619742
    [PubMed - indexed for MEDLINE]
    11.

    Profiling dihydropyrimidine dehydrogenase deficiency in patients with cancer undergoing 5-fluorouracil/capecitabine therapy.

    Mercier C, Ciccolini J.

    Clin Colorectal Cancer. 2006 Nov;6(4):288-96. Review.

    PMID:
    17241513
    [PubMed - indexed for MEDLINE]
    12.

    Clinical relevance of different dihydropyrimidine dehydrogenase gene single nucleotide polymorphisms on 5-fluorouracil tolerance.

    Morel A, Boisdron-Celle M, Fey L, Soulie P, Craipeau MC, Traore S, Gamelin E.

    Mol Cancer Ther. 2006 Nov;5(11):2895-904.

    PMID:
    17121937
    [PubMed - indexed for MEDLINE]
    Free Article
    13.

    5-Fluorouracil-related severe toxicity: a comparison of different methods for the pretherapeutic detection of dihydropyrimidine dehydrogenase deficiency.

    Boisdron-Celle M, Remaud G, Traore S, Poirier AL, Gamelin L, Morel A, Gamelin E.

    Cancer Lett. 2007 May 8;249(2):271-82. Epub 2006 Oct 24.

    PMID:
    17064846
    [PubMed - indexed for MEDLINE]
    14.

    Hand-foot syndrome variant in a dihydropyrimidine dehydrogenase-deficient patient treated with capecitabine.

    Saif MW, Elfiky A, Diasio R.

    Clin Colorectal Cancer. 2006 Sep;6(3):219-23.

    PMID:
    17026792
    [PubMed - indexed for MEDLINE]
    15.

    Increased prevalence of dihydropyrimidine dehydrogenase deficiency in African-Americans compared with Caucasians.

    Mattison LK, Fourie J, Desmond RA, Modak A, Saif MW, Diasio RB.

    Clin Cancer Res. 2006 Sep 15;12(18):5491-5.

    PMID:
    17000684
    [PubMed - indexed for MEDLINE]
    Free Article
    16.

    Dihydropyrimidine dehydrogenase deficiency in an Indian population.

    Saif MW, Mattison L, Carollo T, Ezzeldin H, Diasio RB.

    Cancer Chemother Pharmacol. 2006 Sep;58(3):396-401. Epub 2006 Jan 19.

    PMID:
    16421754
    [PubMed - indexed for MEDLINE]

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