Lethal ornithine transcarbamylase deficiency in a female neonate.

作者信息

Girgis N, McGravey V, Shah B L, Herrin J, Shih V E

机构信息

Baystate Medical Center, Springfield, MA.

出版信息

J Inherit Metab Dis. 1987;10(3):274-5. doi: 10.1007/BF01800079.

DOI:10.1007/BF01800079

PMID:3123791

Abstract

摘要

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New approaches to the diagnosis and treatment of inborn errors or urea synthesis.

Pediatrics. 1981 Aug;68(2):290-7.

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J Am Acad Dermatol. 1986 Feb;14(2 Pt 2):321-6. doi: 10.1016/s0190-9622(86)70035-2.

Ornithine transcarbamylase deficiency: enzyme studies on a further case and a method of diagnosis using plasma enzyme ratios.

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