메뉴 건너뛰기




Volumn 94, Issue 2, 2008, Pages 157-161

n of 1 trial for an ornithine transcarbamylase deficiency carrier

Author keywords

l Arginine; n of 1 trial; Ornithine transcarbamylase enzyme deficiency; OTC; OTCD; Randomized controlled trial

Indexed keywords

ARGININE; GLUTAMINE; PLACEBO;

EID: 43449102466     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2008.02.001     Document Type: Article
Times cited : (10)

References (26)
  • 3
    • 33745686059 scopus 로고    scopus 로고
    • Mutations and polymorphisms in the human ornithine transcarbamylase OTC gene
    • Yamaguchi S., Brailey L.L., Morizono H., Bale A.E., and Tuchman M. Mutations and polymorphisms in the human ornithine transcarbamylase OTC gene. Hum. Mutat. 27 (2006) 626-632
    • (2006) Hum. Mutat. , vol.27 , pp. 626-632
    • Yamaguchi, S.1    Brailey, L.L.2    Morizono, H.3    Bale, A.E.4    Tuchman, M.5
  • 4
    • 0025633857 scopus 로고
    • Late-onset ornithine transcarbamylase deficiency in male patients
    • Finkelstein J.E., Hauser E.R., Leonard C.O., and Brusilow S.W. Late-onset ornithine transcarbamylase deficiency in male patients. J. Pediatr. 117 (1990) 897-902
    • (1990) J. Pediatr. , vol.117 , pp. 897-902
    • Finkelstein, J.E.1    Hauser, E.R.2    Leonard, C.O.3    Brusilow, S.W.4
  • 5
    • 0029094266 scopus 로고
    • Ornithine transcarbamylase deficiency in females: an often overlooked cause of treatable encephalopathy
    • Pridmore C., Clarke J., and Blaser S. Ornithine transcarbamylase deficiency in females: an often overlooked cause of treatable encephalopathy. J. Child Neurol. 10 (1995) 369-374
    • (1995) J. Child Neurol. , vol.10 , pp. 369-374
    • Pridmore, C.1    Clarke, J.2    Blaser, S.3
  • 6
    • 0018903701 scopus 로고
    • Cerebral dysfunction in asymptomatic carriers of OTCD
    • Batshaw M. Cerebral dysfunction in asymptomatic carriers of OTCD. NEJM 302 (1980) 482
    • (1980) NEJM , vol.302 , pp. 482
    • Batshaw, M.1
  • 7
    • 0034747043 scopus 로고    scopus 로고
    • Ornithine carbamoyltransferase deficiency
    • Wraith J.E. Ornithine carbamoyltransferase deficiency. Arch. Dis. Child 84 (2001) 84-88
    • (2001) Arch. Dis. Child , vol.84 , pp. 84-88
    • Wraith, J.E.1
  • 8
    • 0031879761 scopus 로고    scopus 로고
    • Alternative pathway therapy for urea cycle disorders
    • Feillet F., and Leonard J.V. Alternative pathway therapy for urea cycle disorders. J. Inherit. Metab. Dis. 21 (1998) 101-111
    • (1998) J. Inherit. Metab. Dis. , vol.21 , pp. 101-111
    • Feillet, F.1    Leonard, J.V.2
  • 9
    • 0021673226 scopus 로고
    • Arginine an indispensable amino acid for patients with inborn errors of urea synthesis
    • Brusilow S. Arginine an indispensable amino acid for patients with inborn errors of urea synthesis. J. Clin. Invest. 74 (1984) E2148
    • (1984) J. Clin. Invest. , vol.74
    • Brusilow, S.1
  • 10
    • 0026665643 scopus 로고
    • Plasma glutamine concentration: a guide to the management of urea cycle disorders
    • Maestri N., McGowan K., and Brusilow S. Plasma glutamine concentration: a guide to the management of urea cycle disorders. J. Pediatr. 121 (1992) E261
    • (1992) J. Pediatr. , vol.121
    • Maestri, N.1    McGowan, K.2    Brusilow, S.3
  • 12
    • 0031731634 scopus 로고    scopus 로고
    • l-Arginine-induced vasodilation in healthy humans: pharmacokinetic-pharmacodynamic relationship
    • Bode-Boger S.M., Boger R.H., Galland A., Tsikas D., and Frolich J.C. l-Arginine-induced vasodilation in healthy humans: pharmacokinetic-pharmacodynamic relationship. Br. J. Clin. Pharmacol. 46 (1998) 489-497
    • (1998) Br. J. Clin. Pharmacol. , vol.46 , pp. 489-497
    • Bode-Boger, S.M.1    Boger, R.H.2    Galland, A.3    Tsikas, D.4    Frolich, J.C.5
  • 13
    • 2142827884 scopus 로고    scopus 로고
    • The functional assessment of chronic illness therapy (FACIT) measurement system: properties applications, and interpretation
    • Webster K., Cella D., and Yost K. The functional assessment of chronic illness therapy (FACIT) measurement system: properties applications, and interpretation. Health Qual. Life Outcomes 1 (2003) 79
    • (2003) Health Qual. Life Outcomes , vol.1 , pp. 79
    • Webster, K.1    Cella, D.2    Yost, K.3
  • 14
    • 0035100541 scopus 로고    scopus 로고
    • Ornithine carbamoyl transferase deficiency: improved sensitivity of testing for protein tolerance in the diagnosis of heterozygotes
    • Potter M., Hammond J., Sim K.-G., Green A., and Wilcken B. Ornithine carbamoyl transferase deficiency: improved sensitivity of testing for protein tolerance in the diagnosis of heterozygotes. J. Inherit. Metab. Dis. 24 (2001) 5-14
    • (2001) J. Inherit. Metab. Dis. , vol.24 , pp. 5-14
    • Potter, M.1    Hammond, J.2    Sim, K.-G.3    Green, A.4    Wilcken, B.5
  • 16
    • 12644261446 scopus 로고    scopus 로고
    • Asymptomatic and late-onset ornithine transcarbamylase (OTC) deficiency in males of a five-generation family, caused by an A208T mutation caused by an A208T mutation
    • van Diggelen O.P., Zaremba J., He W., Keulemans J.L., Boer A.M., Reuser A.J., Ausems M.G., Smeitink J.A., Kowalczyk J., Pronicka E., et al. Asymptomatic and late-onset ornithine transcarbamylase (OTC) deficiency in males of a five-generation family, caused by an A208T mutation caused by an A208T mutation. Clin. Genet. 50 (1996) 310-316
    • (1996) Clin. Genet. , vol.50 , pp. 310-316
    • van Diggelen, O.P.1    Zaremba, J.2    He, W.3    Keulemans, J.L.4    Boer, A.M.5    Reuser, A.J.6    Ausems, M.G.7    Smeitink, J.A.8    Kowalczyk, J.9    Pronicka, E.10
  • 17
    • 0029052816 scopus 로고
    • The molecular basis of ornithine transcarbamylase deficiency: modelling the human enzyme and the effects of mutations
    • Tuchman M., Morizono H., Reish O., Yuan X., and Allewell N.M. The molecular basis of ornithine transcarbamylase deficiency: modelling the human enzyme and the effects of mutations. J. Med. Genet. 32 (1995) 680-688
    • (1995) J. Med. Genet. , vol.32 , pp. 680-688
    • Tuchman, M.1    Morizono, H.2    Reish, O.3    Yuan, X.4    Allewell, N.M.5
  • 18
    • 0023709248 scopus 로고
    • Late onset ornithine carbamoyl transferase deficiency in males
    • Drogari E., and Leonard J. Late onset ornithine carbamoyl transferase deficiency in males. Arch. Dis. Child 63 (1988) 1363-1367
    • (1988) Arch. Dis. Child , vol.63 , pp. 1363-1367
    • Drogari, E.1    Leonard, J.2
  • 19
    • 0347949709 scopus 로고    scopus 로고
    • Metabolic and neuropsychological phenotype in women heterozygous for ornithine transcarbamylase deficiency
    • Gyato K., Wray J., Huang Z.J., Yudkoff M., and Batshaw M.L. Metabolic and neuropsychological phenotype in women heterozygous for ornithine transcarbamylase deficiency. Ann. Neurol. 55 (2004) 80-86
    • (2004) Ann. Neurol. , vol.55 , pp. 80-86
    • Gyato, K.1    Wray, J.2    Huang, Z.J.3    Yudkoff, M.4    Batshaw, M.L.5
  • 20
    • 0031160345 scopus 로고    scopus 로고
    • Adult-onset type II citrullinemia: clinical pictures before and after liver transplantation
    • Kawata A., Suda M., and Tanabe H. Adult-onset type II citrullinemia: clinical pictures before and after liver transplantation. Intern. Med. 36 (1997) 408-412
    • (1997) Intern. Med. , vol.36 , pp. 408-412
    • Kawata, A.1    Suda, M.2    Tanabe, H.3
  • 22
    • 0037344702 scopus 로고    scopus 로고
    • Brain MR imaging in acute hyperammonemic encephalopathy arising from late-onset ornithine transcarbamylase deficiency
    • Takanashi J.-i., Barkovich A.J., Cheng S.F., Kostiner D., Baker J.C., and Packman S. Brain MR imaging in acute hyperammonemic encephalopathy arising from late-onset ornithine transcarbamylase deficiency. AJNR Am. J. Neuroradiol. 24 (2003) 390-393
    • (2003) AJNR Am. J. Neuroradiol. , vol.24 , pp. 390-393
    • Takanashi, J.-i.1    Barkovich, A.J.2    Cheng, S.F.3    Kostiner, D.4    Baker, J.C.5    Packman, S.6
  • 23
    • 0029786498 scopus 로고    scopus 로고
    • Long-term treatment of girls with ornithine transcarbamylase deficiency
    • Maestri N.E., Brusilow S.W., Clissold D.B., and Bassett S.S. Long-term treatment of girls with ornithine transcarbamylase deficiency. N. Engl. J. Med. 335 (1996) 855-859
    • (1996) N. Engl. J. Med. , vol.335 , pp. 855-859
    • Maestri, N.E.1    Brusilow, S.W.2    Clissold, D.B.3    Bassett, S.S.4
  • 24
    • 0031646276 scopus 로고    scopus 로고
    • The phenotype of ostensibly healthy women who are carriers for ornithine transcarbamylase deficiency
    • Maestri N.E., Lord C., Glynn M., Bale A., and Brusilow S.W. The phenotype of ostensibly healthy women who are carriers for ornithine transcarbamylase deficiency. Medicine 77 (1998) 389-397
    • (1998) Medicine , vol.77 , pp. 389-397
    • Maestri, N.E.1    Lord, C.2    Glynn, M.3    Bale, A.4    Brusilow, S.W.5
  • 25
    • 0025164841 scopus 로고
    • The n of 1 randomized controlled trial: clinical usefulness
    • Guyatt G., Keller J., Jaeschke R., et al. The n of 1 randomized controlled trial: clinical usefulness. Ann. Intern. Med. 112 (1990) 293-299
    • (1990) Ann. Intern. Med. , vol.112 , pp. 293-299
    • Guyatt, G.1    Keller, J.2    Jaeschke, R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.