Mutation analysis in South American patients with Mucopolysaccharidosis type I
Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder due to the deficiency of-L-iduronidase (IDUA). Severely affected patients show coarse faces, hepatosplenomegaly and mental retardation. Mild cases have facial features, joint stiffness, short stature but no CNS involvement. The gen...
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| Autores principales: | Matte, Ursula, Leistner, Sandra, Schwartz, Ida, Lima, Luciane, Chamoles, Néstor, Yogalingam, Gouri, Brooks, Doug, Hopwood, John, Giugliani, Roberto |
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| Formato: | Articulo |
| Lenguaje: | Inglés |
| Publicado: |
2001
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| Materias: | |
| Acceso en línea: | http://sedici.unlp.edu.ar/handle/10915/5648 http://www.fcnym.unlp.edu.ar/aabra/3-2-2001/Matte%20et%20al..pdf http://suquia.ffyh.unc.edu.ar/handle/suquia/10894 |
| Aporte de: |
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