Prolidase deficiency: a patient without hydroxyproline-containing iminodipeptides in urine.
作者信息
Wysocki S J, Hahnel R, Mahoney T, Wilson R G, Panegyres P K
机构信息
Department of Obstetrics and Gynaecology, University of Western Australia, King Edward Memorial Hospital for Women, Subiaco.
出版信息
J Inherit Metab Dis. 1988;11(2):161-5. doi: 10.1007/BF01799866.
PMID:3139928
Abstract
A 17-year-old girl was shown to have prolidase deficiency on the basis of the presence of large amounts of proline-containing dipeptides in urine and an almost complete absence of prolidase in plasma and erythrocytes. Unlike most earlier cases of this genetic defect our patient did not excrete hydroxyproline-containing dipeptides in her urine.
摘要
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