SOCIAL QUESTIONS|health|medical science · SOCIAL QUESTIONS|health|illness
- 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])"