title: [A genetic disease with a defect in biochemical sulfation--biochemical studies on Lowe's syndrome].
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D006025:Glycosaminoglycans / Q000096:biosynthesis / Q000652:urine; D006801:Humans; D008297:Male; D009800:Oculocerebrorenal Syndrome / Q000175:diagnosis / Q000378:metabolism*; D011507:Proteinuria / Q000378:metabolism; D011755:Pyrophosphatases / Q000502:physiology; D015499:Renal Tubular Transport, Inborn Errors / Q000378:metabolism*; D012867:Skin / Q000378:metabolism
chemical_list: D006025:Glycosaminoglycans; D011755:Pyrophosphatases; C021899:nucleotide pyrophosphatase