Gaois

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2 results

  1. SOCIAL QUESTIONS|health|medical science · SOCIAL QUESTIONS|health|illness

    #634525

    IATE #1685502
    múcapolaisiúicríodóis de chineál 1-H Reference Faomhadh an téarma seo mar chuid de Thionscadal Lex
    ga
    Pfaundler-Hurler Syndrom | Lipochondrodystrophie | Mukopolysaccharidose Typ I-H | Gargoylismus | dysostotische Idiotie
    de
    Definition am Ende des 1. Lebensjahrs (u. später) sich manifestierende autosomal-rezessiv erbliche Mukopolysaccharidose mit Ablagerung von Dermatan- u. Heparansulfat in Mesenchym- u. Ganglienzellen Reference "Roche-Lexikon, http://www.gesundheit.de/roche (10.9.2008)"
    MPS I | mucopolysaccharidosis I | mucopolysaccharidosis type I-H | MPS I-H | Hurler syndrome | Hurler's syndrome | Hurler's disease | Pfaundler-Hurler syndrome | lipochondrodystrophy | dysostosis multiplex | gargoylism
    en
    Definition inherited disorder caused by a lack of specific lysosomal enzymes involved in the degradation of glycosaminoglycans (GAGs), or mucopolysaccharides, which cause interference with cell, tissue, and organ function Reference "National Center for Biotechnology Information > Hurler syndrome, http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607014 [23.5.2008]"
    Comment Children with the syndrome appear normal at birth and develop the characteristic appearance over the first years of life.
    mucopolysaccharidose de type I | MPS I | MPS I-H | maladie de Hurler | syndrome de Hurler | syndrome de Pfaundler-Hurler | lipochondrodystrophie | dysostose multiple | gargoylisme
    fr
    Comment "la mucopolysaccharidose de type 1 se subdivise en trois phénotypes : IH ou maladie de Hurler; IS ou maladie de Scheie; et IH/S ou maladie de Hurler/Scheie (voir: http://www.genzyme.ca/thera/mps/ca_fr_p_tp_thera-mps.asp [9.1.2008])"
  2. SOCIAL QUESTIONS|health|illness · SOCIAL QUESTIONS|health|medical science

    #640373

    IATE #2245723
    múcapolaisiúicrídeois cineál I H/S Reference Faomhadh an téarma seo mar chuid de Thionscadal Lex
    ga
    Hurler-Scheie-Syndrom | Mukopolysaccharidose Typ I-H/S
    de
    mucopolysaccharidosis type I | mucopolysaccharidosis type I H/S | MPS I-H/S | Hurler-Scheie syndrome
    en
    Definition disease of intermediate severity due to the presence of one Hurler mutation and one Scheie mutation Reference "MedicineNet.com > hurler syndrome definition, http://www.medterms.com/script/main/art.asp?articlekey=3821 [20.7.2009]"
    mucopolysaccharidose de type I | mucopolysaccharidose de type I H/S | MPS I-H/S | syndrome de Hurler-Scheie
    fr