Gaois

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

    #558227

    IATE #1464444
    galar Maroteaux-Lamy Reference Faomhadh an téarma seo mar chuid de Thionscadal Lex
    ga
    múcapolaisiúicrídeois cineál VI Reference Faomhadh an téarma seo mar chuid de Thionscadal Lex
    ga
    Maroteaux-Lamy-Syndrom | Mukopolysaccharidose Typ VI
    de
    Maroteaux-Lamy syndrome | MPS VI | mucopolysaccharidosis type VI | Maroteaux-Lamy disease
    en
    Definition form of mucopolysaccharidosis with the clinical onset before age 3 that is characterised by an inability to metabolize dermatan sulfate Reference MedicineNet.com > maroteaux-lamy syndrome definition, http://www.medterms.com/script/main/art.asp?articlekey=11622 [20.7.2009]
    Comment This leads to abnormal accumulation of dermatan sulfate, resulting in mild to severe changes in muscle, bone, skin, and other tissues, particularly the heart.
    syndrome de Maroteaux-Lamy | MPS VI | nanisme polydystrophique de Maroteaux-Lamy | mucopolysaccharidose de type VI | maladie de Maroteaux-Lamy
    fr
    Definition "une maladie de surcharge lysosomale, du groupe des mucopolysaccharidoses caractérisée par une atteinte somatique sévère et une absence de régression psycho-intellectuelle. (...) La maladie est due au déficit en N-acétylgalactosamine-4-sulfatase (ou arylsulfatase B), responsable de l'accumulation de dermatane sulfate dans les lysosomes des tissus surchargés." Reference ORPHANET http://www.orpha.net/ > Maladies rares – Médicaments orphelins > Liste alphabétique des maladies > M > Mucopolysaccharidose type 6 [11.1.2008]