Gaois

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2 results

  1. SOCIAL QUESTIONS|health|illness
    histicíotóis liopóideach Reference Faomhadh an téarma seo mar chuid de Thionscadal Lex
    ga
    galar Niemann-Pick Reference Faomhadh an téarma seo mar chuid de Thionscadal Lex
    ga
    Phosphatidlipoidose | generalisierte retikulohistiozytäre Sphingomyelinlipoidose | lipoidzellige Hepatosplenomegalie | Niemann-Pick Krankheit | großzellige Drüsenmetamorphose
    de
    Definition im Säuglingsalter beginnende familiäre, einfach-rezessiv erbliche Krankheit mit Speicherung von Sphingomyelin im retikulohistiozytären System, auch in Mesenchym und Epithel, präfinal in nahezu allen Organen Reference Reallex.Med.
    essential lipoid histiocytosis | sphingomyelin lipidosis | lipoid histiocytosis (classical phosphatide) | sphingomyelinase deficiency | DAF syndrome | lipid histiocytosis | Niemann-Pick disease
    en
    Definition group of inherited metabolic disorders known as the leukodystrophies or lipid storage diseases in which harmful quantities of a fatty substance (lipids) accumulate in the spleen, liver, lungs, bone marrow, and the brain Reference NINDS (National Institute of Neurological Disorders and Stroke) > Niemann-Pick Disease Information Page, http://www.ninds.nih.gov/disorders/niemann/niemann.htm (8.7.2009)
    Comment See also:- lysosomal storage disease (broader) [ IATE:261782 ]- Niemann-Pick Disease type C (narrower) [ IATE:3550112 ]
    maladie de Niemann-Pick | histiocytose lipoïdique essentielle | sphingomyélinose
    fr
    Definition génopathie humaine caractérisée par une accumulation anormale de sphingomyélines dans les tissus, liée à un déficit enzymatique de la sphingomyélinase qui entraîne une dégénérescence nerveuse progressive et la mort en quelques années Reference Dictionnaire de l'Académie de Médecine - version 2013, Niemann-Pick (maladie de), http://dictionnaire.academie-medecine.fr/?q=iemann-Pick%20(maladie%20de) [13.12.2013]
  2. SOCIAL QUESTIONS|health|illness
    Galar Niemann-Pick de chineál C Reference Faomhadh an téarma seo mar chuid de Thionscadal Lex
    ga
    Niemann-Pick-Krankheit Typ C
    de
    NPC | Niemann-Pick Disease type C
    en
    Definition lipid storage disease that can present in infants, children, or adults Reference Marc Patterson. Niemann-Pick Disease Type C, http://www.ncbi.nlm.nih.gov/books/NBK1296/ [21.5.2013]
    Comment NPC Patients are not able to metabolise cholesterol and other lipids properly within the cell. Consequently, excessive amounts of cholesterol accumulate within the liver and spleen and excessive amounts of other lipids accumulate in the brain. NPC causes a secondary reduction of acid sphingomyelinase (ASM) activity, which led all three types to be considered forms of the same disease. This enzyme is found in special compartments within cells called lysosomes and is required to metabolize a lipid called sphingomyelin. If ASM is absent or not functioning properly, sphingomyelin cannot be metabolised properly and is accumulated within the cell, eventually causing cell death and the malfunction of major organ systems.See also:- Niemann-Pick Disease (broader) [ IATE:1489534 ]
    maladie de Niemann-Pick de type C
    fr
    Definition maladie génétique autosomique récessive avec atteinte neuro-viscérale caractérisée par l'altération du transport des lipides dans les cellules Reference Actelion > Accueil > Professionnels de santé > Maladie Niemann-Pick C, http://www.actelion.fr/fr/professionnels-de-sante/maladie-niemann-pick-c/index.page [13.12.2013]
    Comment Cette altération du transport des lipides entraîne l’accumulation de cholestérol dans le foie et la rate ainsi que l’accumulation de sphingolipides dans les neurones.