Neurodevelopmental outcome of long-term therapy of urea cycle disorders in Japan
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005374027693/fullpdf
Reference9 articles.
1. Carbamyl phosphate synthetase I deficiency. One base substitution in an exon of the CPS I gene causes a 9-basepair deletion due to aberrant splicing;Hoshide;J Clin Invest,1993
2. Long-term treatment of girls with ornithine transcarbamylase deficiency;Maestri;N Engl J Med,1996
3. The ornithine transcarbamylase (OTC) gene: mutations in 50 Japanese families with OTC deficiency;Matsuda;Am J Med Genet,1997
4. Retrospective survey of urea cycle disorders: part 1. Clinical and laboratory observations of thirty-two Japanese male patients with ornithine transcarbamylase deficiency;Matsuda;Am J Med Genet,1991
5. Neurological outcome in children with inborn errors of urea synthesis. Outcome of urea-cycle enzymopathies;Msall;N Engl J Med,1984
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