期刊
ARCHIVES OF DISEASE IN CHILDHOOD
卷 89, 期 5, 页码 479-480出版社
BMJ PUBLISHING GROUP
DOI: 10.1136/adc.2003.031187
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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.
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