title: Early proximal tubular dysfunction in Lowe's syndrome.
abstract: The early diagnosis of Lowe's syndrome can be difficult. Urinary excretion of retinol binding protein (RBP) and the lysosomal enzyme N-acetyl-glucosaminidase (NAG) were significantly increased in boys with Lowe's syndrome. Measurement of these urine parameters is recommended in suspected cases.
authors.affiliation: Nephrourology Unit, Institute of Child Health and Great Ormond Street Hospital for Children, London, UK.
authors.forename: G F
authors.initials: GF
authors.lastname: Laube
authors.forename: I M
authors.initials: IM
authors.lastname: Russell-Eggitt
authors.forename: W G
authors.initials: WG
authors.lastname: van't Hoff
mesh_terms: D000118:Acetylglucosaminidase / Q000652:urine; D002648:Child; D002675:Child, Preschool; D004797:Enzyme-Linked Immunosorbent Assay; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007674:Kidney Diseases / Q000503:physiopathology* / Q000652:urine; D007684:Kidney Tubules / Q000503:physiopathology*; D009800:Oculocerebrorenal Syndrome / Q000503:physiopathology* / Q000652:urine; D012177:Retinol-Binding Proteins / Q000652:urine
chemical_list: D012177:Retinol-Binding Proteins; D000118:Acetylglucosaminidase