MUCOPOLYSACCHARIDOSIS TYPE II
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-iduronosulph...
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| Format: | Book |
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Union of pediatricians of Russia,
2011-06-01T00:00:00Z.
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| 001 | doaj_94e6f5f630bb433f8116ad3e53a6e49c | ||
| 042 | |a dc | ||
| 100 | 1 | 0 | |a N.D. Vashakmadze |e author |
| 700 | 1 | 0 | |a L.S. Namazova-Baranova |e author |
| 700 | 1 | 0 | |a A.K. Gevorkyan |e author |
| 700 | 1 | 0 | |a L.M. Kuzenkova |e author |
| 700 | 1 | 0 | |a A.D. Khristochevskiy |e author |
| 700 | 1 | 0 | |a L.M. Vysotskaya |e author |
| 700 | 1 | 0 | |a A.S. Dadashev |e author |
| 245 | 0 | 0 | |a MUCOPOLYSACCHARIDOSIS TYPE II |
| 260 | |b Union of pediatricians of Russia, |c 2011-06-01T00:00:00Z. | ||
| 500 | |a 1727-5776 | ||
| 500 | |a 2500-3089 | ||
| 520 | |a 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. | ||
| 546 | |a RU | ||
| 690 | |a Pediatrics | ||
| 690 | |a RJ1-570 | ||
| 690 | |a Therapeutics. Pharmacology | ||
| 690 | |a RM1-950 | ||
| 655 | 7 | |a article |2 local | |
| 786 | 0 | |n Педиатрическая фармакология, Vol 8, Iss 3, Pp 66-68 (2011) | |
| 787 | 0 | |n https://pf.spr-journal.ru/jour/article/view/1273 | |
| 787 | 0 | |n https://doaj.org/toc/1727-5776 | |
| 787 | 0 | |n https://doaj.org/toc/2500-3089 | |
| 856 | 4 | 1 | |u https://doaj.org/article/94e6f5f630bb433f8116ad3e53a6e49c |z Connect to this object online. |