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mukolipidózy

  1. Subject h.mukolipidózy
    Subject h.Mucolipidoses
    Entry termsmukolipidóza
    choroba I-buniek
    mukolipidóza I
    mukolipidóza II
    sialidóza
    lipomukopolysacharidóza
    syndróm myoklonický, s čerešňovočervenou škvrnou na očnom pozadí
    choroba z deficitu gangliozidsialidázy
    pseudo-Hurlerova polydystrofia
    English X referencesCherry Red Spot Myoclonus Syndrome
    Ganglioside Sialidase Deficiency Disease
    I-Cell Disease
    Lipomucopolysaccharidosis
    Mucolipidosis
    Myoclonus Cherry Red Spot Syndrome
    Pseudo-Hurler Polydystrophy
    Sialidosis
    Scope note in EnglishA group of inherited metabolic diseases characterized by the accumulation of excessive amounts of acid mucopolysaccharides, sphingolipids, and/or glycolipids in visceral and mesenchymal cells. Abnormal amounts of sphingolipids or glycolipids are present in neural tissue. INTELLECTUAL DISABILITY and skeletal changes, most notably dysostosis multiplex, occur frequently. (From Joynt, Clinical Neurology, 1992, Ch56, pp36-7)
    See also reference (FX) in Slovak gangliozidózy
    See also reference (FX) in English Gangliosidoses
    Links (1) - ARTICLES
    (1) - MeSH descriptor
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Number of the records: 1  

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