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Volumn 43, Issue 4-5, 2010, Pages 461-466

Clinical and biochemical characteristics of patients with urea cycle disorders in a developing country

Author keywords

Hyperammonemia; Inborn errors of metabolism; Metabolic diseases; Mexico; Mortality; Newborn screening; Urea cycle disorders

Indexed keywords

ARGINASE; ARGININOSUCCINATE LYASE; ARGININOSUCCINATE SYNTHASE; ORNITHINE CARBAMOYLTRANSFERASE;

EID: 77149127415     PISSN: 00099120     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.clinbiochem.2009.12.004     Document Type: Article
Times cited : (11)

References (32)
  • 2
    • 0023485142 scopus 로고
    • Diagnosis of urea cycle disorders
    • Bachmann C. Diagnosis of urea cycle disorders. Enzyme 38 (1987) 233-241
    • (1987) Enzyme , vol.38 , pp. 233-241
    • Bachmann, C.1
  • 4
    • 60449098799 scopus 로고    scopus 로고
    • Identifying the direct effects of ammonia on the brain
    • Bosoi C.R., and Rose C.F. Identifying the direct effects of ammonia on the brain. Meteb. Brain Dis. 24 (2009) 95-102
    • (2009) Meteb. Brain Dis. , vol.24 , pp. 95-102
    • Bosoi, C.R.1    Rose, C.F.2
  • 5
    • 26844455345 scopus 로고    scopus 로고
    • Urea cycle disorders: clinical presentation outside the newborn period
    • Smith W., Kishnani P.S., Lee B., et al. Urea cycle disorders: clinical presentation outside the newborn period. Crit. Care Clin. 21 (2005) 9-17
    • (2005) Crit. Care Clin. , vol.21 , pp. 9-17
    • Smith, W.1    Kishnani, P.S.2    Lee, B.3
  • 6
    • 58349105988 scopus 로고    scopus 로고
    • Genetic variation in the urea cycle: a model resource for investigating key candidate genes for common diseases
    • Mitchell S., Ellingson C., Coyne T., et al. Genetic variation in the urea cycle: a model resource for investigating key candidate genes for common diseases. Hum. Mutat. 30 (2009) 56-60
    • (2009) Hum. Mutat. , vol.30 , pp. 56-60
    • Mitchell, S.1    Ellingson, C.2    Coyne, T.3
  • 9
    • 1642547106 scopus 로고    scopus 로고
    • Cognitive outcome in urea cycle disorders
    • Gropman A.L., and Batshaw M.L. Cognitive outcome in urea cycle disorders. Mol. Genet. Metab. 81 (2004) 58-62
    • (2004) Mol. Genet. Metab. , vol.81 , pp. 58-62
    • Gropman, A.L.1    Batshaw, M.L.2
  • 10
    • 51349111824 scopus 로고    scopus 로고
    • Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes
    • Summar M.L., Dobbelaere D., Brusilow S., and Lee B. Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes. Acta Paediatr. 97 (2008) 1420-1425
    • (2008) Acta Paediatr. , vol.97 , pp. 1420-1425
    • Summar, M.L.1    Dobbelaere, D.2    Brusilow, S.3    Lee, B.4
  • 11
    • 0031926212 scopus 로고    scopus 로고
    • Neurodevelopmental outcome of long-term therapy of urea cycle disorders in Japan
    • Uchino T., Endo F., and Matsuda I. Neurodevelopmental outcome of long-term therapy of urea cycle disorders in Japan. J. Inherit. Metab. Dis. 21 (1998) 151-159
    • (1998) J. Inherit. Metab. Dis. , vol.21 , pp. 151-159
    • Uchino, T.1    Endo, F.2    Matsuda, I.3
  • 12
    • 0025886368 scopus 로고
    • Retrospective survey of urea cycle disorders: Part 2. Neurological outcome in forty-nine Japanese patients with urea cycle enzymopathies
    • Nagata N., Matsuda I., Matsuura T., et al. Retrospective survey of urea cycle disorders: Part 2. Neurological outcome in forty-nine Japanese patients with urea cycle enzymopathies. Am. J. Med. Genet. 40 (1991) 477-481
    • (1991) Am. J. Med. Genet. , vol.40 , pp. 477-481
    • Nagata, N.1    Matsuda, I.2    Matsuura, T.3
  • 13
    • 0035139916 scopus 로고    scopus 로고
    • Laboratory evaluation of urea cycle disorders
    • Steiner R.D., and Cederbaum S.D. Laboratory evaluation of urea cycle disorders. J. Pediatr. 138 (2001) 21-29
    • (2001) J. Pediatr. , vol.138 , pp. 21-29
    • Steiner, R.D.1    Cederbaum, S.D.2
  • 14
    • 0000326728 scopus 로고    scopus 로고
    • Inherited hyperammonemia
    • Blau N., Duran M., and Blaskovics M.E. (Eds), Chapman & hall medical
    • Tuchman M. Inherited hyperammonemia. In: Blau N., Duran M., and Blaskovics M.E. (Eds). Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases (1996), Chapman & hall medical 209-222
    • (1996) Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases , pp. 209-222
    • Tuchman, M.1
  • 15
    • 49149086386 scopus 로고    scopus 로고
    • Neurologic damage and neurocognitive dysfunction in urea cycle disorders
    • Enns G.M. Neurologic damage and neurocognitive dysfunction in urea cycle disorders. Semin. Pediatr. Neurol. 15 (2008) 132-139
    • (2008) Semin. Pediatr. Neurol. , vol.15 , pp. 132-139
    • Enns, G.M.1
  • 16
    • 36849048235 scopus 로고    scopus 로고
    • Contrasting features of urea cycle disorders in human patients and knockout mouse models
    • Deignan J.L., Cederbaum S.D., and Grody W.W. Contrasting features of urea cycle disorders in human patients and knockout mouse models. Mol. Genet. Metab. 93 (2008) 7-14
    • (2008) Mol. Genet. Metab. , vol.93 , pp. 7-14
    • Deignan, J.L.1    Cederbaum, S.D.2    Grody, W.W.3
  • 17
    • 0018597819 scopus 로고
    • New pathways of nitrogen excretion in inborn errors of urea synthesis
    • Brusilow S.W., Valle D.L., and Batshaw M. New pathways of nitrogen excretion in inborn errors of urea synthesis. Lancet 2 (1979) 452-454
    • (1979) Lancet , vol.2 , pp. 452-454
    • Brusilow, S.W.1    Valle, D.L.2    Batshaw, M.3
  • 18
    • 0035145334 scopus 로고    scopus 로고
    • Alternative pathway therapy for urea cycle disorders: twenty years later
    • Batshaw M.L., MacArthur R.B., and Tuchman M. Alternative pathway therapy for urea cycle disorders: twenty years later. J. Pediatr. 138 (2001) 46-55
    • (2001) J. Pediatr. , vol.138 , pp. 46-55
    • Batshaw, M.L.1    MacArthur, R.B.2    Tuchman, M.3
  • 19
    • 1642506318 scopus 로고    scopus 로고
    • The role of liver transplantation in urea cycle disorders
    • Leonard J.V., and McKiernan P.J. The role of liver transplantation in urea cycle disorders. Mol. Genet. Metab. 81 (2004) 74-78
    • (2004) Mol. Genet. Metab. , vol.81 , pp. 74-78
    • Leonard, J.V.1    McKiernan, P.J.2
  • 21
    • 0031927872 scopus 로고    scopus 로고
    • Evaluation of gene therapy for citrullinaemia using murine and bovine models
    • Patejunas G., Lee B., Dennis J.A., et al. Evaluation of gene therapy for citrullinaemia using murine and bovine models. J. Inherit. Metab. Dis. 21 (2009) 138-150
    • (2009) J. Inherit. Metab. Dis. , vol.21 , pp. 138-150
    • Patejunas, G.1    Lee, B.2    Dennis, J.A.3
  • 23
    • 0025039145 scopus 로고
    • Amino acid profiles by HPLC after filter paper sampling: 'appropriate technology' for monitoring of nutritional status
    • Lundsjö A., Hagelberg S., Palmér K., and Lindblad B.S. Amino acid profiles by HPLC after filter paper sampling: 'appropriate technology' for monitoring of nutritional status. Clin. Chim. Acta. 191 (1990) 201-209
    • (1990) Clin. Chim. Acta. , vol.191 , pp. 201-209
    • Lundsjö, A.1    Hagelberg, S.2    Palmér, K.3    Lindblad, B.S.4
  • 24
    • 77149126612 scopus 로고    scopus 로고
    • Available at:, Accessed October 15, 2009
    • Beckman & Coulter Web site. Available at: http://www.beckmancoulter.com/vsearch/parametric.asp?QueryText= ammonia&formSubmitted=1&QuerySubmit=true. Accessed October 15, 2009.
    • Beckman & Coulter Web site
  • 26
    • 34247097562 scopus 로고    scopus 로고
    • The renaming of mental retardation: understanding the change to the term intellectual disability
    • Schalock R.L., Luckasson R.A., Shogren K.A., et al. The renaming of mental retardation: understanding the change to the term intellectual disability. Intellect. Dev. Disabil. 45 (2007) 116-124
    • (2007) Intellect. Dev. Disabil. , vol.45 , pp. 116-124
    • Schalock, R.L.1    Luckasson, R.A.2    Shogren, K.A.3
  • 27
    • 46749144467 scopus 로고    scopus 로고
    • Urea Cycle Disorders Consortium of the Rare Diseases Clinical Research Network. Cross-sectional multicenter study of patients with urea cycle disorders in the United States
    • Tuchman M., Lee B., Lichter-Konecki U., et al. Urea Cycle Disorders Consortium of the Rare Diseases Clinical Research Network. Cross-sectional multicenter study of patients with urea cycle disorders in the United States. Mol. Genet. Metab. 94 (2008) 397-402
    • (2008) Mol. Genet. Metab. , vol.94 , pp. 397-402
    • Tuchman, M.1    Lee, B.2    Lichter-Konecki, U.3
  • 28
    • 0346059335 scopus 로고    scopus 로고
    • Long-term outcome of patients with urea cycle disorders and the question of neonatal screening
    • Bachmann C. Long-term outcome of patients with urea cycle disorders and the question of neonatal screening. Eur. J. Pediatr. 162 (2003) 29-33
    • (2003) Eur. J. Pediatr. , vol.162 , pp. 29-33
    • Bachmann, C.1
  • 29
    • 0037944015 scopus 로고    scopus 로고
    • Outcome and survival of 88 patients with urea cycle disorders: a retrospective evaluation
    • Bachmann C. Outcome and survival of 88 patients with urea cycle disorders: a retrospective evaluation. Eur. J. Pediatr. 162 (2003) 410-416
    • (2003) Eur. J. Pediatr. , vol.162 , pp. 410-416
    • Bachmann, C.1
  • 30
    • 2642513241 scopus 로고    scopus 로고
    • Clinical manifestations of inborn errors of the urea cycle and related metabolic disorders during childhood
    • Endo F., Matsuura T., Yanagita K., and Matsuda I. Clinical manifestations of inborn errors of the urea cycle and related metabolic disorders during childhood. J. Nutr. 134 (2004) 1605-1609
    • (2004) J. Nutr. , vol.134 , pp. 1605-1609
    • Endo, F.1    Matsuura, T.2    Yanagita, K.3    Matsuda, I.4
  • 31
    • 37449022958 scopus 로고    scopus 로고
    • Nutritional management of patients with urea cycle disorders
    • Singh R.H. Nutritional management of patients with urea cycle disorders. J. Inherit. Metab. Dis. 30 (2007) 880-887
    • (2007) J. Inherit. Metab. Dis. , vol.30 , pp. 880-887
    • Singh, R.H.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.