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.
CITATION STYLE
Laube, G. F., Russell-Eggitt, I. M., & Van’t Hoff, W. G. (2004). Early proximal tubular dysfunction in Lowe’s syndrome. Archives of Disease in Childhood, 89(5), 479–480. https://doi.org/10.1136/adc.2003.031187
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