Mucopolysaccharidosis type II: Enzyme Replacement Therapy Efficiency
Mucopolysaccharidosis type II (MPS II), or Hunter syndrome, is the hereditary lysosomal storage disease caused by pathological variants in IDS gene. Such variants lead to iduronate-2-sulfatase enzyme deficiency and glycosaminoglycan catabolism disorder. Major clinical signs are central nervous syste...
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| Hauptverfasser: | , , , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
"Paediatrician" Publishers LLC
2020-02-01
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| Schriftenreihe: | Вопросы современной педиатрии |
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| Online-Zugang: | https://vsp.spr-journal.ru/jour/article/view/2264 |
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