Mucopolysaccharidoses

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  Subject Areas on Research

  • A straightforward, quantitative ultra-performance liquid chromatography-tandem mass spectrometric method for heparan sulfate, dermatan sulfate and chondroitin sulfate in urine: an improved clinical screening test for the mucopolysaccharidoses. 
  • Carrier detection in Sanfilippo syndrome type B: report of six families. 
  • Clinical outcome of cerebrospinal fluid shunting for communicating hydrocephalus in mucopolysaccharidoses I, II, and III: a retrospective analysis of 13 patients. 
  • Improvements in sensorineural hearing loss after cord blood transplant in patients with mucopolysaccharidosis. 
  • Quantification of glycosaminoglycans in urine by isotope-dilution liquid chromatography-electrospray ionization tandem mass spectrometry. 
  • Transplant outcomes in mucopolysaccharidoses.