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- Urea cycle disorders overview. In: GeneReviews at GeneTests. Medical genetics information resource. Copyright, University of Washington, Seattle. 1997–2005.(Available at:)Accessed March 1, 2005)
- Estimated frequency of urea cycle enzymopathies in Japan [letter].Am J Med Genet. 1991; 39: 228-229
- Urea cycle disorders: clinical paradigm of hyperammonemic encephalopathy.Prog Liver Dis. 1995; 13: 293-309
- Clinical proceduress in prenatal diagnosis.Best Pract Res Clin Obstet Gynaecol. 2002; 16: 611-627
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- Fetal liver biopsy for prenatal diagnosis of carbamoyl phosphate synthetase deficiency.Am J Perinatol. 1994; 11: 160-162
- Prenatal diagnosis for arginase deficiency: a case study.J Inherit Metab Dis. 2003; 26: 607-610
- Linkage analysis for prenatal diagnosis of an X-linked disorder. Genetests: Medical Genetics Information Resource. Educational Materials: Illustrated Glossary, Linkage Analysis. Copyright, University of Washington, Seattle. 1993–2005.(Available at:)Accessed March 1, 2005)
- The calculation of genetic risks: worked examples in DNA diagnostics. 2nd edition. Johns Hopkins University Press, Baltimore (MD)1997
- An integrated approach to the diagnosis and prospective management of partial ornithine transcarbamylase deficiency.Pediatrics. 2002; 109: 150-152
- In vivo urea cycle flux distinguishes and correlates with phenotypic severity in disorders of the urea cycle.Proc Natl Acad Sci USA. 2000; 97: 8021-8026
Dr. Summar acknowledges the support of NIH grants MOI-RR-0095 and U54-RR-019453.
Complete financial disclosure information for each author is provided in the frontmatter of this supplement on page iii.