Mucopolysacccharidoses: From understanding to treatment, a century of discoveries

@inproceedings{Giugliani2012MucopolysacccharidosesFU,
  title={Mucopolysacccharidoses: From understanding to treatment, a century of discoveries},
  author={Roberto Giugliani},
  booktitle={Genetics and molecular biology},
  year={2012}
}
After the first description of a patient recognized as a MPS case was made in 1917, several similar cases were described and identified. Observations reported in the middle of the twentieth century concerning the presence of acid mucopolysaccharides (later called glycosaminoglycans, or GAGs) in tissues and especially in urine of patients were instrumental in providing an identity for these diseases, which became referred as "mucopolysaccharidoses" (MPS). In the late 1960's it was demonstrated… CONTINUE READING
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