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...
Gardado en:
| Principais autores: | , , , , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
"Paediatrician" Publishers LLC
2020-02-01
|
| Series: | Вопросы современной педиатрии |
| Assuntos: | |
| Acceso en liña: | https://vsp.spr-journal.ru/jour/article/view/2264 |
| Tags: |
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!
|