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choroba z mnohopočetného deficitu sulfatáz
Subject h. choroba z mnohopočetného deficitu sulfatáz Subject h. Multiple Sulfatase Deficiency Disease Entry terms choroba z multiplicitného deficitu sulfatáz
choroba z mnohopočetného nedostatku sulfatáz
choroba z multiplicitného nedostatku sulfatázScope note in English An inherited metabolic disorder characterized by the intralysosomal accumulation of sulfur-containing lipids (sulfatides) and MUCOPOLYSACCHARIDES. Excess levels of both substrates are present in urine. This is a disorder of multiple sulfatase (arylsulfatases A, B, and C) deficiency which is caused by the mutation of sulfatase-modifying factor-1. Neurological deterioration is rapid. 
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