A review and selection of simple laboratory methods used for the study of glycosaminoglycan excretion and the diagnosis of the mucopolysaccharidoses.
The current state of knowledge on the biochemical abnormalities in the mucopolysaccharidoses is reviewed. Methods for the estimation and identification of glycoasminoglycans excreted in the mucopolysaccharidoses are discussed and a selection of simple and reliable methods of value in a small hospital laboratory have been given in detail in an appendix.
D001192:Arylsulfatases / Q000032:analysis; D011232:Chemical Precipitation; D002855:Chromatography, Thin Layer / Q000379:methods; D002986:Clinical Trials as Topic; D003937:Diagnosis, Differential; D004588:Electrophoresis, Cellulose Acetate / Q000379:methods; D006025:Glycosaminoglycans / Q000302:isolation & purification / Q000378:metabolism / Q000652:urine*; D006603:Hexuronic Acids / Q000652:urine; D006801:Humans; D008403:Mass Screening; D009083:Mucopolysaccharidoses / Q000175:diagnosis* / Q000652:urine; D013048:Specimen Handling / Q000379:methods; D009626:Terminology as Topic
D006025:Glycosaminoglycans; D006603:Hexuronic Acids; D001192:Arylsulfatases