Comprehensive urinary screening for inborn errors of complex carbohydrate metabolism.
A rapid and comprehensive urinary screening programme is presented by which most of the "heteroglycanoses" can be identified. The diagnoses obtained on a total of 44 patients with different storage disorders shows the usefulness of the method.
D002239:Carbohydrate Metabolism, Inborn Errors / Q000652:urine*; D002855:Chromatography, Thin Layer; D004586:Electrophoresis; D006025:Glycosaminoglycans / Q000302:isolation & purification / Q000652:urine; D006801:Humans; D007632:Keratan Sulfate / Q000652:urine; D008403:Mass Screening; D009083:Mucopolysaccharidoses / Q000652:urine
D006025:Glycosaminoglycans; D007632:Keratan Sulfate