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.

DOI:10.1007/BF01800077

PMID:3123789

Abstract

摘要

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引用本文的文献

Late onset ornithine carbamoyl transferase deficiency in males.

Arch Dis Child. 1988 Nov;63(11):1363-7. doi: 10.1136/adc.63.11.1363.

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本文引用的文献

Diagnostic value of orotic acid excretion in heritable disorders of the urea cycle and in hyperammonemia due to organic acidurias.

Eur J Pediatr. 1980 Aug;134(2):109-13. doi: 10.1007/BF01846026.

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