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glykogenóza, typ I

  1. Subject h.glykogenóza, typ I
    Subject h.Glycogen Storage Disease Type I
    Entry termschoroba z ukladania glykogénu, typ I
    deficit glukóza-6-fosfatázy
    deficit glukózafosfatázy
    glykogenóza 1
    choroba z ukladania glykogénu, hepatorenálna
    glykogenóza hepatorenálna
    von Gierkeho choroba
    English X referencesGlucose-6-Phosphatase Deficiency
    Glucosephosphatase Deficiency
    Glycogenosis 1
    Hepatorenal Glycogen Storage Disease
    von Gierke Disease
    Scope note in EnglishAn autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycemia due to lack of glucose production. Accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly. Increased concentrations of lactic acid and hyperlipidemia appear in the plasma. Clinical gout often appears in early childhood.
    Links (7) - ARTICLES
    (1) - CiBaMed
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