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Case Reports
. 2000 May;82(5):390-1.
doi: 10.1136/adc.82.5.390.

Under recognition of late onset ornithine transcarbamylase deficiency

R E Schultz  1 , M K Salo
Affiliations
Case Reports

Under recognition of late onset ornithine transcarbamylase deficiency

R E Schultz et al. Arch Dis Child. 2000 May.

Abstract

Late onset ornithine transcarbamylase deficiency (McKusick 311250) is reported in four Finnish patients, two boys and two heterozygous girls. The subtle onset and course of ornithine transcarbamylase deficiency emphasises the need for plasma ammonia and amino acid measurements in clinical situations suggesting a disorder of this nature.

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References

    1. J Pediatr. 1990 Dec;117(6):897-902 - PubMed
    1. Am J Hum Genet. 1991 Feb;48(2):212-22 - PubMed
    1. J Inherit Metab Dis. 1998;21 Suppl 1:40-58 - PubMed
    1. Hum Mutat. 1996;8(4):373-4 - PubMed
    1. Clin Genet. 1996 Nov;50(5):310-6 - PubMed

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