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Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis I
Scheie syndrome is the most attenuated and rarest form of mucopolysaccharidosis type I (MPS I), an inherited lysosomal storage disorder. Only small patient series have previously been reported. Using natural history data from the uniquely large population of 78 Scheie patients enrolled in the MPS I...
Autores principales: | , , , |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Springer Netherlands
2010
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2903709/ https://www.ncbi.nlm.nih.gov/pubmed/20532982 http://dx.doi.org/10.1007/s10545-010-9113-7 |