RT Journal Article
SR Electronic
T1 Early proximal tubular dysfunction in Lowe’s syndrome
JF Archives of Disease in Childhood
JO Arch Dis Child
FD BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health
SP 479
OP 480
DO 10.1136/adc.2003.031187
VO 89
IS 5
A1 Laube, G F
A1 Russell-Eggitt, I M
A1 van’t Hoff, W G
YR 2004
UL http://adc.bmj.com/content/89/5/479.abstract
AB 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.