Gaois

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8 results

  1. SOCIAL QUESTIONS|health|illness · SOCIAL QUESTIONS|health|medical science
    múcapolaisiúicrídeois cineál I Reference Faomhadh an téarma seo mar chuid de Thionscadal Lex
    ga
    Mukopolysaccharidose Typ I-S | Scheie-Krankheit
    de
    mucopolysaccharidosis type I S | mucopolysaccharidosis type I | Scheie syndrome | MPS I S
    en
    Definition disease due to deficiency of alpha-L-iduronidase Reference MedicineNet.com > hurler syndrome definition, http://www.medterms.com/script/main/art.asp?articlekey=3821 [20.7.2009]
    mucopolysaccharidose de type I S | mucopolysaccharidose de type I | MPS I-S | maladie de Scheie
    fr
  2. SOCIAL QUESTIONS|health|illness · SOCIAL QUESTIONS|health|medical science
    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 | MPS I-H/S | Hurler-Scheie syndrome | mucopolysaccharidosis type I H/S
    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]
    MPS I-H/S | syndrome de Hurler-Scheie | mucopolysaccharidose de type I | mucopolysaccharidose de type I H/S
    fr
  3. SOCIAL QUESTIONS|health|illness · SOCIAL QUESTIONS|health|medical science
    múcapolaisiúicríodóis de chineál 1-H Reference Faomhadh an téarma seo mar chuid de Thionscadal Lex
    ga
    Lipochondrodystrophie | Pfaundler-Hurler Syndrom | 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)
    mucopolysaccharidosis type I-H | dysostosis multiplex | Hurler syndrome | gargoylism | Hurler's syndrome | mucopolysaccharidosis I | lipochondrodystrophy | Hurler's disease | MPS I-H | Pfaundler-Hurler syndrome | MPS I
    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.
    maladie de Hurler | gargoylisme | dysostose multiple | MPS I-H | MPS I | syndrome de Pfaundler-Hurler | lipochondrodystrophie | syndrome de Hurler | mucopolysaccharidose de type I
    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])
  4. SOCIAL QUESTIONS|health|illness · SOCIAL QUESTIONS|health|medical science
    múcapolaisiúicrídeois cineál II Reference Faomhadh an téarma seo mar chuid de Thionscadal Lex
    ga
    Hunter-Syndrom | Mukopolysaccharidose Typ II
    de
    Hunter disease | Hunter syndrome | Hunter's syndrome | MPS II | mucopolysaccharidosis II
    en
    Definition genetic metabolic disorder that arises from deficiency of the enzyme iduronate sulfatase, resulting in tissue deposits of molecules called mucopolysaccharides Reference MedicineNet.com > hunter syndrome definition, http://www.medterms.com/script/main/art.asp?articlekey=21020 [20.7.2009]
    Comment The characteristic features of Hunter syndrome include dwarfism, bone deformities, a thickened coarse face, hepatosplenomegaly (enlargement of the liver and spleen) from mucopolysaccharide deposits, cardiovascular disorders from mucopolysaccharide deposits, and deafness.
    mucopolysaccharidose de type II | MPS II | maladie de Hunter
    fr
  5. SOCIAL QUESTIONS|health|illness · SOCIAL QUESTIONS|health|medical science
    múcapolaisiúicrídeois cineál III Reference Faomhadh an téarma seo mar chuid de Thionscadal Lex
    ga
    Sanfilippo-Syndrom | Oligophrenia polydystrophica | Mukopolysaccharidose Typ III
    de
    Definition autosomal-rezessiv erbliche Mukopolysaccharidose mit Heparansulfaturie als einzigem pathologischem Harnbefund Reference Reallex Med
    MPS III | mucopolysaccharidosis type III | Sanfilippo syndrome
    en
    Definition most common disorder of mucopolysaccharide metabolism, a syndrome in which the onset of clinical abnormalities is between the ages of 2 and 6 with mild coarsening of the facial features (but normal clear corneas), mild stiffening of the joints, slowing of growth, and intellectual deterioration resulting in severe mental retardation Reference MedicineNet.com > Definition of Sanfilippo syndrome, http://www.medterms.com/script/main/art.asp?articlekey=11152 (15.6.2009)
    maladie de Sanfilippo | MPS III | mucopolysaccharidose de type III | oligophrénie polydystrophique de Lamy-Maroteaux
    fr
    Definition maladie de surcharge lysosomale, du groupe des mucopolysaccharidoses, caractérisée par une dégradation intellectuelle sévère et rapide. Reference ORPHANET http://www.orpha.net/ > Maladies rares – Médicaments orphelins > Liste alphabétique des maladies > M > Mucopolysaccharidose type 3 [10.1.2008]
    Comment La maladie est due à la présence d'héparane sulfate non dégradé en raison du déficit de l'une ou l'autre des 4 enzymes nécessaires à son catabolisme, responsable de l'un des 4 types de MPS III : type IIIA (héparane sulfamidase), type IIIB (alpha-N-acétylglucosaminidase), type IIIC (acétylCoA : alpha-glucosaminide-N-acétyltransférase), et type IIID (N-acétylglucosamine-6-sulfate sulfatase). Les gènes de ces 4 enzymes ont été localisés, clonés et identifiés (MPS IIIA en 17q25 ; MPS IIIB en 17q21 ; MPS IIIC dans la région péricentromérique du chromosome 8 et MPS IIID en 12q14) et de nombreuses mutations différentes identifiées. La transmission de chaque type se fait sur le mode récessif autosomique.
  6. SOCIAL QUESTIONS|health|illness · SOCIAL QUESTIONS|health|medical science
    múcapolaisiúicrídeois cineál IX Reference Faomhadh an téarma seo mar chuid de Thionscadal Lex
    ga
    Mukopolysaccharidose Typ IX
    de
    MPS IX | Natowicz syndrome | mucopolysaccharidosis type IX
    en
    Definition rare inherited biochemical disorder characterised by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of an enzyme (hyaluronidase) needed to break it down Reference Wrong Diagnosis > Dictionary > Mucopolysaccharidosis, type IX, http://www.wrongdiagnosis.com/medical/mucopolysaccharidosis_type_ix.htm (4.8.2009)
    MPS IX | mucopolysaccharidose de type IX
    fr
  7. SOCIAL QUESTIONS|health|illness · SOCIAL QUESTIONS|health|medical science
    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]
  8. SOCIAL QUESTIONS|health|illness · SOCIAL QUESTIONS|health|medical science
    múcapolaisiúicrídeois cineál VII Reference Faomhadh an téarma seo mar chuid de Thionscadal Lex
    ga
    Mukopolysaccharidose Typ VII | Thompson-Melson-Grobelny-Syndrom | Sly-Syndrom
    de
    Sly syndrome | MPS VII | mucopolysaccharidosis type VII | Sly disease
    en
    Definition mucopolysaccharide storage disorder caused by a deficiency of the enzyme beta-glucuronidase Reference Society for Mucopolysaccharide Diseases > Sly Disease, http://www.mpssociety.co.uk/uploads/sly_factsheet.pdf [20.7.2009]
    maladie de Sly | mucopolysaccharidose de type VII | MPS VII | syndrome de Sly
    fr
    Definition "une maladie de surcharge lysosomale, très rare, du groupe des mucopolysaccharidoses. (...) La maladie est due au déficit en bêta-D-glucuronidase, responsable de l'accumulation dans les lysosomes de divers glycosaminoglycanes (...) Le pronostic est sombre pour les formes à présentation anténatale qui aboutissent le plus souvent à une mort foetale in utero. Les formes néonatales et infantiles ont une espérance de vie très limitée tandis que les formes atténuées sont compatibles avec une survie plus prolongée." Reference ORPHANET http://www.orpha.net/ > Maladies rares – Médicaments orphelins > Liste alphabétique des maladies > M > Mucopolysaccharidose type 7 [11.1.2008]