title: Importance of the combined urinary procedure for the diagnosis of Mucopolysaccharidoses.
abstract: BACKGROUND
  Mucopolysaccharidoses are characterized by the accumulation of undegraded glycosaminoglycans in lysosomes in multiple organs and by their excretion in high amounts in urine. The aim of this study is to determine if this simple, reliable and reproducible method is useful for the diagnosis of Mucopolysaccharidoses.
  
  
  METHODS
  The study included 2154 normal urine samples and 210 samples from 73 patients affected by different types of Mucopolysaccharidoses. The glycosaminoglycans were quantified by a dimethylmethylene blue method and size-fractionated by a modified one-dimensional electrophoresis method.
  
  
  RESULTS
  The combination of the two methods allowed to identify all the patients affected by the different types of Mucopolysaccharidosis with 100% sensitivity and specificity.
  
  
  CONCLUSIONS
  This combined approach gives fast diagnostic orientation about the different types of Mucopolysaccharidoses, offering an important tool for a better understanding of diagnosis and patient management.
authors.affiliation: Pediatric Division, Department of Clinical Sciences, Università Politecnica delle Marche, Ospedali Riuniti, Presidio Salesi, Ancona, Italy. Electronic address: l.zampini@univpm.it.
authors.forename: Lucia
authors.initials: L
authors.lastname: Zampini
authors.affiliation: Pediatric Division, Department of Clinical Sciences, Università Politecnica delle Marche, Ospedali Riuniti, Presidio Salesi, Ancona, Italy.
authors.forename: Lucia
authors.initials: L
authors.lastname: Padella
authors.affiliation: Pediatric Division, Department of Clinical Sciences, Università Politecnica delle Marche, Ospedali Riuniti, Presidio Salesi, Ancona, Italy.
authors.forename: Rita Lucia
authors.initials: RL
authors.lastname: Marchesiello
authors.affiliation: Pediatric Division, Department of Clinical Sciences, Università Politecnica delle Marche, Ospedali Riuniti, Presidio Salesi, Ancona, Italy.
authors.forename: Lucia
authors.initials: L
authors.lastname: Santoro
authors.affiliation: Pediatric Division, Department of Clinical Sciences, Università Politecnica delle Marche, Ospedali Riuniti, Presidio Salesi, Ancona, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Monachesi
authors.affiliation: Radiological Sciences, Department of Clinical Sciences, Università Politecnica delle Marche, Ospedali Riuniti, Presidio Salesi, Ancona, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Giovagnoni
authors.affiliation: Pediatric Division, Department of Clinical Sciences, Università Politecnica delle Marche, Ospedali Riuniti, Presidio Salesi, Ancona, Italy.
authors.forename: Carlo
authors.initials: C
authors.lastname: Catassi
authors.affiliation: Pediatric Division, Department of Clinical Sciences, Università Politecnica delle Marche, Ospedali Riuniti, Presidio Salesi, Ancona, Italy.
authors.forename: Orazio
authors.initials: O
authors.lastname: Gabrielli
authors.affiliation: Pediatric Division, Department of Clinical Sciences, Università Politecnica delle Marche, Ospedali Riuniti, Presidio Salesi, Ancona, Italy.
authors.forename: Giovanni Valentino
authors.initials: GV
authors.lastname: Coppa
authors.affiliation: Pediatric Division, Department of Clinical Sciences, Università Politecnica delle Marche, Ospedali Riuniti, Presidio Salesi, Ancona, Italy.
authors.forename: Tiziana
authors.initials: T
authors.lastname: Galeazzi
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D006025:Glycosaminoglycans / Q000652:urine; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009083:Mucopolysaccharidoses / Q000175:diagnosis* / Q000652:urine*; D015203:Reproducibility of Results; D012189:Retrospective Studies; D016482:Urinalysis / Q000191:economics / Q000379:methods*
chemical_list: D006025:Glycosaminoglycans
keywords: Chondroitin sulphate; Dermatan sulphate; Glycosaminoglycans; Heparan sulphate; Keratan sulphate; Mucopolysaccharidoses