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Current strategies for the management of neonatal urea cycle disorders.
Summar M. Summar M. J Pediatr. 2001 Jan;138(1 Suppl):S30-9. doi: 10.1067/mpd.2001.111834. J Pediatr. 2001. PMID: 11148547
Neonatal pulmonary hypertension--urea-cycle intermediates, nitric oxide production, and carbamoyl-phosphate synthetase function.
Pearson DL, Dawling S, Walsh WF, Haines JL, Christman BW, Bazyk A, Scott N, Summar ML. Pearson DL, et al. N Engl J Med. 2001 Jun 14;344(24):1832-8. doi: 10.1056/NEJM200106143442404. N Engl J Med. 2001. PMID: 11407344
Prospective versus clinical diagnosis and therapy of acute neonatal hyperammonaemia in two sisters with carbamyl phosphate synthetase deficiency.
Tuchman M, Mauer SM, Holzknecht RA, Summar ML, Vnencak-Jones CL. Tuchman M, et al. J Inherit Metab Dis. 1992;15(2):269-77. doi: 10.1007/BF01799641. J Inherit Metab Dis. 1992. PMID: 1356172
Genetic variation in the urea cycle: a model resource for investigating key candidate genes for common diseases.
Mitchell S, Ellingson C, Coyne T, Hall L, Neill M, Christian N, Higham C, Dobrowolski SF, Tuchman M, Summar M; Urea Cycle Disorder Consortium. Mitchell S, et al. Hum Mutat. 2009 Jan;30(1):56-60. doi: 10.1002/humu.20813. Hum Mutat. 2009. PMID: 18666241
Effect of cardiopulmonary bypass on urea cycle intermediates and nitric oxide levels after congenital heart surgery.
Barr FE, Beverley H, VanHook K, Cermak E, Christian K, Drinkwater D, Dyer K, Raggio NT, Moore JH, Christman B, Summar M. Barr FE, et al. J Pediatr. 2003 Jan;142(1):26-30. doi: 10.1067/mpd.2003.mpd0311. J Pediatr. 2003. PMID: 12520250
Vaccines are not associated with metabolic events in children with urea cycle disorders.
Morgan TM, Schlegel C, Edwards KM, Welch-Burke T, Zhu Y, Sparks R, Summar M; Urea Cycle Disorders Consortium. Morgan TM, et al. Pediatrics. 2011 May;127(5):e1147-53. doi: 10.1542/peds.2010-1628. Epub 2011 Apr 11. Pediatrics. 2011. PMID: 21482610 Free PMC article.
The incidence of urea cycle disorders.
Summar ML, Koelker S, Freedenberg D, Le Mons C, Haberle J, Lee HS, Kirmse B; European Registry and Network for Intoxication Type Metabolic Diseases (E-IMD). Electronic address: http://www.e-imd.org/en/index.phtml; Members of the Urea Cycle Disorders Consortium (UCDC). Electronic address: http://rarediseasesnetwork.epi.usf.edu/ucdc/. Summar ML, et al. Mol Genet Metab. 2013 Sep-Oct;110(1-2):179-80. doi: 10.1016/j.ymgme.2013.07.008. Epub 2013 Jul 18. Mol Genet Metab. 2013. PMID: 23972786 Free PMC article.
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