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- W90638260 abstract "Article is devoted to one of the orphan diseases — mucopolysaccharidosis (MPS), which is the result of any lysosomal enzyme deficiency (which determines the type of illness). The most common is the MPS type II (Hunter syndrome), developing as a result of deficiency of the enzyme alpha-L-iduronosulphatsulphataze. The authors are observing the largest group of children with this pathology in the Russian population — 40 patients. On the example of their own clinical cases the only existing on the date the pathogenetic treatment is provided — replacement therapy with idursulphase that significantly improves the disease prognosis. Key words: MPS, types, Hunter syndrome, clinical course, diagnosis, treatment, prognosis, children." @default.
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- W90638260 date "2011-01-01" @default.
- W90638260 modified "2023-09-24" @default.
- W90638260 title "Мукополисахаридоз II типа" @default.
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