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  • Title: [Lysosomal storage diseases in selected clinical cases].
    Author: Banyś A, Ostróżka-Cieślik A, Sarecka-Hujar B.
    Journal: Wiad Lek; 2016; 69(1):43-7. PubMed ID: 27162295.
    Abstract:
    Lysosomal storage diseases (LSDs) are metabolic disorders that result from a situation when enzymes taking part in different processes exist in too small an amount or don't exist whatsoever. They exhibit great clinical diversification. The intensity of the symptoms depends on residual enzyme activity, type of stored material and storage speed. The common feature of all LSDs is their progressive course and reduced life expectancy. The symptoms can appear in the first few weeks of life and the patients are then referred for medical treatment to pediatricians. Older patients are referred for medical treatment to dermatologists, cardiologists, neurologists or orthopedists. There are few described cases in Poland which is due to the fact that these diseases are considered rare.
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