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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...
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| 主要な著者: | , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
"Paediatrician" Publishers LLC
2021-12-01
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| シリーズ: | Voprosy Sovremennoj Pediatrii |
| 主題: | |
| オンライン･アクセス: | https://vsp.spr-journal.ru/jour/article/view/2776 |
| タグ: |
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