Open issues in Mucopolysaccharidosis type I-Hurler
Abstract Mucopolysaccharidosis I-Hurler (MPS I-H) is the most severe form of a metabolic genetic disease caused by mutations of IDUA gene encoding the lysosomal α-L-iduronidase enzyme. MPS I-H is a rare, life-threatening disease, evolving in multisystem morbidity including progressive neurological d...
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| Principais autores: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMC
2017-06-01
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| coleção: | Orphanet Journal of Rare Diseases |
| Assuntos: | |
| Acesso em linha: | http://link.springer.com/article/10.1186/s13023-017-0662-9 |
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