Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis I

@inproceedings{Thomas2010ChildhoodOO,
  title={Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis I},
  author={Janet A. Thomas and Michael Beck and Joe T. R. Clarke and Gerald F. Cox},
  booktitle={Journal of Inherited Metabolic Disease},
  year={2010}
}
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 Registry, we characterized the onset and prevalence of clinical manifestations and explored reasons for delayed diagnosis of the disease. Median patient age was 17.5 years; 46% of the patients were… CONTINUE READING

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