Diagnostic journey and impact of enzyme replacement therapy for mucopolysaccharidosis IVA: a sibling control study
Abstract Background Mucopolysaccharidosis (MPS) IVA, also known as Morquio A syndrome, is a rare autosomal recessive lysosomal storage disorder caused by a deficiency in the enzyme N-acetylgalactosamine-6-sulfatase. Early recognition, diagnosis, and treatment of this progressive, multisystem disease...
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| Автори: | , , , , , |
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| Формат: | Artigo |
| Мова: | Inglês |
| Опубліковано: |
BMC
2020-11-01
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| Серія: | Orphanet Journal of Rare Diseases |
| Предмети: | |
| Онлайн доступ: | https://doi.org/10.1186/s13023-020-01618-y |
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