Rapid identification of San Filippo disease (MPS III).
Humbel's thin-layer chromatography of urine was a rapid, reliable means of identifying type of mucopolysaccharide storage disease in 30 patients. Over half had Hurler-Scheie or Hunter disease (MPS I-V or II); eight had San Filippo disease, of which four expressed the Type B form.
D002855:Chromatography, Thin Layer / Q000379:methods; D003937:Diagnosis, Differential; D006025:Glycosaminoglycans / Q000652:urine; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009083:Mucopolysaccharidoses / Q000652:urine*; D008059:Mucopolysaccharidosis I / Q000652:urine; D016532:Mucopolysaccharidosis II / Q000652:urine; D009084:Mucopolysaccharidosis III / Q000652:urine*; D009085:Mucopolysaccharidosis IV / Q000652:urine; D009087:Mucopolysaccharidosis VI / Q000652:urine
D006025:Glycosaminoglycans