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Volumn 16, Issue 1, 2012, Pages 95-100

Coma, hyperammonemia, metabolic acidosis, and mutation: Lessons learned in the acute management of late onset urea cycle disorders

Author keywords

Coma; Hemodialysis; Hyperammonemia; Metabolic acidosis; Mutation; Ornithine transcarbamylase; Urea cycle; X linked

Indexed keywords

ADIPHENINE; ARGININE; BENZOIC ACID; HIPPURIC ACID; OROTIC ACID;

EID: 84856376326     PISSN: 14927535     EISSN: 15424758     Source Type: Journal    
DOI: 10.1111/j.1542-4758.2011.00591.x     Document Type: Article
Times cited : (8)

References (17)
  • 2
    • 0034076850 scopus 로고    scopus 로고
    • Three cases of intravenous sodium benzoate and sodium phenylacetate toxicity occurring in the treatment of acute hyperammonaemia
    • Praphanphoj V, Boyadjiev SA, Waber LJ, Brusilow SW, Geraghty MT. Three cases of intravenous sodium benzoate and sodium phenylacetate toxicity occurring in the treatment of acute hyperammonaemia. J Inherit Metab Dis. 2000; 23:129-136.
    • (2000) J Inherit Metab Dis , vol.23 , pp. 129-136
    • Praphanphoj, V.1    Boyadjiev, S.A.2    Waber, L.J.3    Brusilow, S.W.4    Geraghty, M.T.5
  • 5
    • 33645764714 scopus 로고    scopus 로고
    • SNPs3D: Candidate gene and SNP selection for association studies
    • Yue P, Melamud E, Moult J. SNPs3D: Candidate gene and SNP selection for association studies. BMC Bioinformatics. 2006; 7:166.
    • (2006) BMC Bioinformatics , vol.7 , pp. 166
    • Yue, P.1    Melamud, E.2    Moult, J.3
  • 6
    • 0024279493 scopus 로고
    • Cerebral edema with hyperammonemia in valpromide poisoning. Manifestation in an adult, of a partial deficit in type I carbamylphosphate synthetase
    • Bourrier P, Varache N, Alquier P, etal. Cerebral edema with hyperammonemia in valpromide poisoning. Manifestation in an adult, of a partial deficit in type I carbamylphosphate synthetase. Presse Med. 1988; 17:2063-2066.
    • (1988) Presse Med , vol.17 , pp. 2063-2066
    • Bourrier, P.1    Varache, N.2    Alquier, P.3
  • 7
    • 0035025079 scopus 로고    scopus 로고
    • Hyperammonemia in urea cycle disorders: Role of the nephrologist
    • Mathias Robert S, Kostiner D, Packman S. Hyperammonemia in urea cycle disorders: Role of the nephrologist. Am J Kidney Dis. 2001; 37:1069-1080.
    • (2001) Am J Kidney Dis , vol.37 , pp. 1069-1080
    • Mathias Robert, S.1    Kostiner, D.2    Packman, S.3
  • 8
    • 0029690198 scopus 로고    scopus 로고
    • Urea cycle disorders: Diagnosis, pathophysiology and therapy
    • Brusilow SW, Maestri NE. Urea cycle disorders: Diagnosis, pathophysiology and therapy. Adv Pediatr. 1996; 43:127-170.
    • (1996) Adv Pediatr , vol.43 , pp. 127-170
    • Brusilow, S.W.1    Maestri, N.E.2
  • 9
    • 0038337959 scopus 로고    scopus 로고
    • Inherited hyperammonemias
    • Blau N, Duran M, Blaskovics ME and Gibson KM, eds., 2nd edn. Berlin: Springer
    • Bachmann C. Inherited hyperammonemias. In: Blau N, Duran M, Blaskovics ME and Gibson KM, eds. Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases, 2nd edn. Berlin: Springer. 2003; 261-276.
    • (2003) Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases , pp. 261-276
    • Bachmann, C.1
  • 10
    • 26844529765 scopus 로고    scopus 로고
    • Unmasked adult-onset urea cycle disorders in the critical care setting
    • Summar M, Barr F, Dawling S, etal. Unmasked adult-onset urea cycle disorders in the critical care setting. Crit Care Clin. 2005; 21:S1-S8.
    • (2005) Crit Care Clin , vol.21
    • Summar, M.1    Barr, F.2    Dawling, S.3
  • 12
    • 0028068808 scopus 로고
    • Inherited and acquired syndromes of hyperammonemia and encephalopathy in children
    • Treem WR. Inherited and acquired syndromes of hyperammonemia and encephalopathy in children. Semin Liver Dis. 1994; 14:236-258.
    • (1994) Semin Liver Dis , vol.14 , pp. 236-258
    • Treem, W.R.1
  • 13
    • 77950338275 scopus 로고    scopus 로고
    • Current concepts in the pathogenesis of urea cycle disorders
    • SUPPL. 1
    • Braissant O. Current concepts in the pathogenesis of urea cycle disorders. Mol Genet Metab. 2010; 100(Suppl 1):S3-S12.
    • (2010) Mol Genet Metab , vol.100
    • Braissant, O.1
  • 14
    • 0031926212 scopus 로고    scopus 로고
    • Neurodevelopmental outcome of long-term therapy of urea cycle disorders in Japan
    • SUPPL. 1
    • Uchino T, Endo F, Matsuda I. Neurodevelopmental outcome of long-term therapy of urea cycle disorders in Japan. J Inherit Metab Dis. 1998; 21(Suppl 1):S151-S159.
    • (1998) J Inherit Metab Dis , vol.21
    • Uchino, T.1    Endo, F.2    Matsuda, I.3
  • 15
    • 0018888564 scopus 로고
    • The management of life threatening hyperammonemia: A comparison of several therapeutic modalities
    • Wiegand C, Thompson T, Bock GH, Mathis RK, Kjellstrand CM, Maur SM. The management of life threatening hyperammonemia: A comparison of several therapeutic modalities. J Pediatr. 1980; 96:142-144.
    • (1980) J Pediatr , vol.96 , pp. 142-144
    • Wiegand, C.1    Thompson, T.2    Bock, G.H.3    Mathis, R.K.4    Kjellstrand, C.M.5    Maur, S.M.6
  • 16
    • 0035139967 scopus 로고    scopus 로고
    • Proceedings of a consensus conference for the management of patients with urea cycle disorders
    • Summar M, Tuchman M. Proceedings of a consensus conference for the management of patients with urea cycle disorders. J Pediatr. 2001; 138:S6-10.
    • (2001) J Pediatr , vol.138
    • Summar, M.1    Tuchman, M.2
  • 17
    • 0025882369 scopus 로고
    • Use of citrulline as a diagnostic marker in the prospective treatment of urea cycle disorders
    • Batshaw ML, Berry GT. Use of citrulline as a diagnostic marker in the prospective treatment of urea cycle disorders. J Pediatr 1991; 118:914-917.
    • (1991) J Pediatr , vol.118 , pp. 914-917
    • Batshaw, M.L.1    Berry, G.T.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.