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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...

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Detalles Bibliográficos
Autores principales: Thomas, Janet A., Beck, Michael, Clarke, Joe T. R., Cox, Gerald F.
Formato: Texto
Lenguaje:English
Publicado: Springer Netherlands 2010
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