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Volumn 56, Issue 10, 2014, Pages 1021-1024

Treatment of arginase deficiency revisited: Guanidinoacetate as a therapeutic target and biomarker for therapeutic monitoring

Author keywords

[No Author keywords available]

Indexed keywords

BENZOIC ACID DERIVATIVE; BIOLOGICAL MARKER; CREATINE; GLYCINE; GUANIDINOACETIC ACID; ORNITHINE;

EID: 84908390761     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/dmcn.12488     Document Type: Article
Times cited : (31)

References (15)
  • 1
    • 0022547276 scopus 로고
    • The gene for human arginase (ARG1) is assigned to chromosome band 6q23
    • Sparkes RS, Dizikes GJ, Klisak I, et al. The gene for human arginase (ARG1) is assigned to chromosome band 6q23. Am J Hum Genet 1986; 39: 186-93.
    • (1986) Am J Hum Genet , vol.39 , pp. 186-193
    • Sparkes, R.S.1    Dizikes, G.J.2    Klisak, I.3
  • 2
    • 13444278657 scopus 로고    scopus 로고
    • Hyperargininemia due to liver arginase deficiency
    • Crombez EA, Cederbaum SD. Hyperargininemia due to liver arginase deficiency. Mol Genet Metab 2005; 84: 243-51.
    • (2005) Mol Genet Metab , vol.84 , pp. 243-251
    • Crombez, E.A.1    Cederbaum, S.D.2
  • 3
    • 33646496837 scopus 로고    scopus 로고
    • Clinical, biochemical, and molecular spectrum of hyperargininemia due to arginase I deficiency
    • Scaglia F, Lee B. Clinical, biochemical, and molecular spectrum of hyperargininemia due to arginase I deficiency. Am J Med Genet C Semin Med Genet 2006; 142C: 113-20.
    • (2006) Am J Med Genet C Semin Med Genet , vol.142 C , pp. 113-120
    • Scaglia, F.1    Lee, B.2
  • 4
    • 84861597931 scopus 로고    scopus 로고
    • Clinical features and neurologic progression of hyperargininemia
    • Carvalho DR, Brum JM, Speck-Martins CE, et al. Clinical features and neurologic progression of hyperargininemia. Pediatr Neurol 2012; 46: 369-74.
    • (2012) Pediatr Neurol , vol.46 , pp. 369-374
    • Carvalho, D.R.1    Brum, J.M.2    Speck-Martins, C.E.3
  • 5
    • 0030900567 scopus 로고    scopus 로고
    • Hyperargininemia presenting as persistent neonatal jaundice and hepatic cirrhosis
    • Braga AC, Vilarinho L, Ferreira E, Rocha H. Hyperargininemia presenting as persistent neonatal jaundice and hepatic cirrhosis. J Pediatr Gastroenterol Nutr 1997; 24: 218-21.
    • (1997) J Pediatr Gastroenterol Nutr , vol.24 , pp. 218-221
    • Braga, A.C.1    Vilarinho, L.2    Ferreira, E.3    Rocha, H.4
  • 6
    • 38048999447 scopus 로고    scopus 로고
    • Increased plasma and tissue guanidino compounds in a mouse model of hyperargininemia
    • Deignan JL, Marescau B, Livesay JC, et al. Increased plasma and tissue guanidino compounds in a mouse model of hyperargininemia. Mol Genet Metab 2008; 93: 172-8.
    • (2008) Mol Genet Metab , vol.93 , pp. 172-178
    • Deignan, J.L.1    Marescau, B.2    Livesay, J.C.3
  • 7
    • 77950341453 scopus 로고    scopus 로고
    • Guanidino compound levels in blood, cerebrospinal fluid, and post-mortem brain material of patients with argininemia
    • Deignan JL, De Deyn PP, Cederbaum SD, et al. Guanidino compound levels in blood, cerebrospinal fluid, and post-mortem brain material of patients with argininemia. Mol Genet Metab 2010; 100(Suppl. 1): S31-6.
    • (2010) Mol Genet Metab , vol.100 , pp. S31-S36
    • Deignan, J.L.1    De Deyn, P.P.2    Cederbaum, S.D.3
  • 8
    • 0025247960 scopus 로고
    • Guanidino compound analysis as a complementary diagnostic parameter for hyperargininemia: follow-up of guanidino compound levels during therapy
    • Marescau B, De Deyn PP, Lowenthal A, et al. Guanidino compound analysis as a complementary diagnostic parameter for hyperargininemia: follow-up of guanidino compound levels during therapy. Pediatr Res 1990; 27: 297-303.
    • (1990) Pediatr Res , vol.27 , pp. 297-303
    • Marescau, B.1    De Deyn, P.P.2    Lowenthal, A.3
  • 9
  • 11
    • 43849095420 scopus 로고    scopus 로고
    • Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology
    • Stockler S, Schutz PW, Salomons GS. Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology. Subcell Biochem 2007; 46: 149-66.
    • (2007) Subcell Biochem , vol.46 , pp. 149-166
    • Stockler, S.1    Schutz, P.W.2    Salomons, G.S.3
  • 12
    • 0021964291 scopus 로고
    • Guanidino compounds in plasma, urine and cerebrospinal fluid of hyperargininemic patients during therapy
    • Marescau B, Qureshi IA, De Deyn P, Letarte J, Ryba R, Lowenthal A. Guanidino compounds in plasma, urine and cerebrospinal fluid of hyperargininemic patients during therapy. Clin Chim Acta 1985; 146: 21-7.
    • (1985) Clin Chim Acta , vol.146 , pp. 21-27
    • Marescau, B.1    Qureshi, I.A.2    De Deyn, P.3    Letarte, J.4    Ryba, R.5    Lowenthal, A.6
  • 13
    • 0035960895 scopus 로고    scopus 로고
    • In vitro stimulation of oxidative stress in cerebral cortex of rats by the guanidino compounds accumulating in hyperargininemia
    • Wyse AT, Bavaresco CS, Hagen ME, et al. In vitro stimulation of oxidative stress in cerebral cortex of rats by the guanidino compounds accumulating in hyperargininemia. Brain Res 2001; 923: 50-7.
    • (2001) Brain Res , vol.923 , pp. 50-57
    • Wyse, A.T.1    Bavaresco, C.S.2    Hagen, M.E.3
  • 14
    • 0026036424 scopus 로고
    • Guanidino compounds that are increased in hyperargininemia inhibit GABA and glycine responses on mouse neurons in cell culture
    • De Deyn PP, Marescau B, Macdonald RL. Guanidino compounds that are increased in hyperargininemia inhibit GABA and glycine responses on mouse neurons in cell culture. Epilepsy Res 1991; 8: 134-41.
    • (1991) Epilepsy Res , vol.8 , pp. 134-141
    • De Deyn, P.P.1    Marescau, B.2    Macdonald, R.L.3
  • 15
    • 80052535969 scopus 로고    scopus 로고
    • Arginase I deficiency: severe infantile presentation with hyperammonemia: more common than reported?
    • Jain-Ghai S, Nagamani SC, Blaser S, Siriwardena K, Feigenbaum A. Arginase I deficiency: severe infantile presentation with hyperammonemia: more common than reported? Mol Genet Metab 2011; 104: 107-11.
    • (2011) Mol Genet Metab , vol.104 , pp. 107-111
    • Jain-Ghai, S.1    Nagamani, S.C.2    Blaser, S.3    Siriwardena, K.4    Feigenbaum, A.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.