Early Diagnosis and Results of Enzyme Replacement Therapy in the Patient with Mucopolysaccharidosis Type VI: Clinical Case
Background. Mucopolysaccharidosis type VI (MPS VI, Maroteaux–Lamy syndrome) is rare autosomal-recessive multisystem disease, one of the group of lysosomal storage diseases. The MPS VI pathogenesis is determined by arylsulfatase B enzyme deficiency caused by mutations in the ARSB gene. There are only...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
"Paediatrician" Publishers LLC
2021-12-01
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| Series: | Вопросы современной педиатрии |
| Subjects: | |
| Online Access: | https://vsp.spr-journal.ru/jour/article/view/2776 |