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Gaucherova choroba

  1. Subject h.Gaucherova choroba
    Subject h.Gaucher Disease
    Entry termssyndróm cerebrozidovej lipidózy
    choroba z deficitu glukocerebrozidázy
    choroba z deficitu glukozylceramidbetaglukozidázy
    Gaucherova choroba neuronopatická
    Gaucherova choroba, typ 1
    Gaucherova choroba, typ 2
    Gaucherova choroba, typ 3
    Gaucherova splenomegália
    deficit glukocerebrozidázy
    glukocerebrozidóza
    deficit glukozylceramidázy
    deficit glukozylceramid beta-glukozidázy
    lipidóza glukozylceramidová
    histiocytóza kerazínová
    lipoidóza kerazínová
    tezaurizmóza kerazínová
    Gaucherova choroba, neuropatická forma
    Gaucherova choroba, subakútna neuropatická forma
    Gaucherova choroba, non-neuropatická forma
    English X referencesCerebroside Lipidosis Syndrome
    Gaucher Disease Type 1
    Gaucher Disease Type 2
    Glucocerebrosidase Deficiency Disease
    Glucosylceramide Beta-Glucosidase Deficiency Disease
    Neuronopathic Gaucher Disease
    Scope note in EnglishAn autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement.
    See also reference (FX) in Slovak glukozylceramidáza
    See also reference (FX) in English Glucosylceramidase
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Number of the records: 1  

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