Number of the records: 1  

glykogenóza, typ IV

  1. Subject h.glykogenóza, typ IV
    Subject h.Glycogen Storage Disease Type IV
    Entry termschoroba z ukladania glykogénu, typ IV
    amylopektinóza
    Andersenova choroba
    deficit branchera
    deficit vetviaceho enzýmu
    glykogenóza 4
    English X referencesAmylopectinosis
    Andersen Disease
    Brancher Deficiency
    Glycogenosis 4
    Scope note in EnglishAn autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2.
    Links (1) - ARTICLES
    subject heading

    subject heading

Number of the records: 1  

  This site uses cookies to make them easier to browse. Learn more about how we use cookies.

Accept allSettingsReject all