Inherited metabolic diseases affecting the carrier
Author:
Affiliation:
1. University Children's Hospital; Anichstrasse 35 Innsbruck A-6020 Austria
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005397120726/fullpdf
Reference79 articles.
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3. Cerebral dysfunction in asymptomatic carriers of ornithine transcarbamylase deficiency;Batshaw;N Engl J Med,1980
4. False positive alanine tolerance test results in heterozygote detection of urea cycle disorders;Batshaw;J Pediatr,1989
5. Failure of protein loading tests to identify heterozygosity for ornithine carbamoyltransferase deficiency;Becroft;J Inher Metab Dis,1984
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