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  • Obravnava bolnikov z Gaucherjevo boleznijo, tip 1 = The management of patients with Gaucher disease, type 1
    Benedik-Dolničar, Majda ; Kitanovski, Lidija
    Background. Accumulation of glucocerebroside in spleen, liver, bone marrow andbones, but rarely in other organs, due to inborn deficiency of lysosomal enzyme glucocerebrosidase leads to Gaucher ... disease. The most common is type 1,chronic non-neuronopathic form of Gaucher disease. In type 1 the central nervous system is not affected and clinical presentations are variable. It could be a mild disease not necessitating therapy or a more severe one which sometimes results even in disability. In such cases the replacement enzyme therapy is reasonable and the dose should be adjusted to the severity of the illness. It improves the patient's condition and prevents the progression of the disease. Conclusions. This article emphasises the guidelines for the management of patients with Gaucher disease, type 1. Recommendations for diagnostic approach and follow up of the patients as well as groups of patients necessitating a replacement enzyme therapy at appropriate doses are defined and stated.
    Vrsta gradiva - članek, sestavni del
    Leto - 2003
    Jezik - slovenski
    COBISS.SI-ID - 17391065