Ornithine transcarbamylase variant in a male patient.
作者信息
Stöckler S, Grossschädl F, Bachmann C, Roscher A
机构信息
Department of Paediatrics, University of Graz, Austria.
出版信息
J Inherit Metab Dis. 1987;10(3):272. doi: 10.1007/BF01800077.
PMID:3123789
Abstract
摘要
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Ornithine transcarbamylase deficiency in a male: strict correlation between metabolic control and plasma arginine concentration.
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Diagnostic value of orotic acid excretion in heritable disorders of the urea cycle and in hyperammonemia due to organic acidurias.乳清酸排泄在尿素循环遗传性疾病及有机酸尿症所致高氨血症中的诊断价值。
Eur J Pediatr. 1980 Aug;134(2):109-13. doi: 10.1007/BF01846026.
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