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Volumn 46, Issue , 2007, Pages 167-181

Pre-symptomatic treatment of creatine biosynthesis defects

Author keywords

[No Author keywords available]

Indexed keywords

AMIDINOTRANSFERASE; CREATINE; DRUG DERIVATIVE; GAMT PROTEIN, HUMAN; GLYCINE; GLYCINE AMIDINOTRANSFERASE; GUANIDINOACETATE METHYLTRANSFERASE; GUANIDINOACETIC ACID;

EID: 43149090114     PISSN: 03060225     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-4020-6486-9_9     Document Type: Article
Times cited : (48)

References (29)
  • 1
    • 23044486415 scopus 로고    scopus 로고
    • Gas chromatography/mass spectrometry assay for arginine:Glycine-amidinotransferase deficiency
    • Alessandri, M.G., Celati, L., Battini, R., Casarano, M., and Cioni, G., 2005, Gas chromatography/mass spectrometry assay for arginine:glycine-amidinotransferase deficiency. Anal. Biochem. 343: 356-358.
    • (2005) Anal. Biochem. , vol.343 , pp. 356-358
    • Alessandri, M.G.1    Celati, L.2    Battini, R.3    Casarano, M.4    Cioni, G.5
  • 2
    • 33745016252 scopus 로고    scopus 로고
    • Arginine:Glycine amidinotransferase (AGAT) deficiency in a newborn: Early treatment can prevent phenotypic expression of the disease
    • Battini, R., Alessandri, M.G., Leuzzi, V., Moro, F., Tosetti, M., Bianchi, M.C., and Cioni, G., 2006, Arginine:glycine amidinotransferase (AGAT) deficiency in a newborn: early treatment can prevent phenotypic expression of the disease. J. Pediatr. 148: 828-830.
    • (2006) J. Pediatr. , vol.148 , pp. 828-830
    • Battini, R.1    Alessandri, M.G.2    Leuzzi, V.3    Moro, F.4    Tosetti, M.5    Bianchi, M.C.6    Cioni, G.7
  • 6
    • 0034971857 scopus 로고    scopus 로고
    • Analysis of guanidinoacetate and creatine by isotope dilution electrospray tandem mass spectrometry
    • Bodamer, O.A., Bloesch, S.M., Gregg, A.R., Stöckler-Ipsiroglu, S., and O'Brien, W.E., 2001, Analysis of guanidinoacetate and creatine by isotope dilution electrospray tandem mass spectrometry. Clin. Chim. Acta 308: 173-178.
    • (2001) Clin. Chim. Acta , vol.308 , pp. 173-178
    • Bodamer, O.A.1    Bloesch, S.M.2    Gregg, A.R.3    Stöckler-Ipsiroglu, S.4    O'Brien, W.E.5
  • 7
    • 23044475041 scopus 로고    scopus 로고
    • Creatine synthesis and transport during rat embryogenesis: Spatiotemporal expression of AGAT, GAMT and CT1
    • Braissant, O., Henry, H., Villard, A.M., Speer, O., Wallimann, T., and Bachmann, C., 2005, Creatine synthesis and transport during rat embryogenesis: spatiotemporal expression of AGAT, GAMT and CT1. BMC Dev. Biol. 5: 9.
    • (2005) BMC Dev. Biol. , vol.5 , pp. 9
    • Braissant, O.1    Henry, H.2    Villard, A.M.3    Speer, O.4    Wallimann, T.5    Bachmann, C.6
  • 9
    • 0036792323 scopus 로고    scopus 로고
    • Guanidinoacetate and creatine plus creatinine assessment in physiologic fluids: An effective diagnostic tool for the biochemical diagnosis of arginine:Glycine amidinotransferase and guanidinoacetate methyltransferase deficiencies
    • Carducci, C., Birarelli, M., Leuzzi, V., Carducci, C., Battini, R., Cioni, G., and Antonozzi, I., 2002, Guanidinoacetate and creatine plus creatinine assessment in physiologic fluids: an effective diagnostic tool for the biochemical diagnosis of arginine:glycine amidinotransferase and guanidinoacetate methyltransferase deficiencies. Clin. Chem. 48: 1772-1778.
    • (2002) Clin. Chem. , vol.48 , pp. 1772-1778
    • Carducci, C.1    Birarelli, M.2    Leuzzi, V.3    Carducci, C.4    Battini, R.5    Cioni, G.6    Antonozzi, I.7
  • 10
    • 31044443726 scopus 로고    scopus 로고
    • Quantitative determination of guanidinoacetate and creatine in dried blood spot by flow injection analysis-electrospray tandem mass spectrometry
    • Carducci, C., Santagata, S., Leuzzi, V., Carducci, C., Artiola, C., Giovanniello, T., Battini, R., and Antonozzi, I., 2006, Quantitative determination of guanidinoacetate and creatine in dried blood spot by flow injection analysis-electrospray tandem mass spectrometry. Clin. Chim. Acta 364: 180-187.
    • (2006) Clin. Chim. Acta , vol.364 , pp. 180-187
    • Carducci, C.1    Santagata, S.2    Leuzzi, V.3    Carducci, C.4    Artiola, C.5    Giovanniello, T.6    Battini, R.7    Antonozzi, I.8
  • 11
    • 0026478010 scopus 로고
    • Convulsive action and toxicity of uremic guanidino compounds: Behavioral assessment and relation to brain concentration in adult mice
    • D'Hooge, R., Pei, Y.Q., Marescau, B., and De Deyn, P.P., 1992, Convulsive action and toxicity of uremic guanidino compounds: behavioral assessment and relation to brain concentration in adult mice. J. Neurol. Sci. 112: 96-105.
    • (1992) J. Neurol. Sci. , vol.112 , pp. 96-105
    • D'Hooge, R.1    Pei, Y.Q.2    Marescau, B.3    De Deyn, P.P.4
  • 16
    • 0036966277 scopus 로고    scopus 로고
    • Activation of GABAA receptors by guanidinoacetate: A novel pathophysiological mechanism
    • Neu, A., Neuhoff, H., Trube, G., Fehr, S., Ullrich, K., Roeper, J., and Isbrandt, D., 2002, Activation of GABAA receptors by guanidinoacetate: a novel pathophysiological mechanism. Neurobiol. Dis. 11: 298-307.
    • (2002) Neurobiol. Dis. , vol.11 , pp. 298-307
    • Neu, A.1    Neuhoff, H.2    Trube, G.3    Fehr, S.4    Ullrich, K.5    Roeper, J.6    Isbrandt, D.7
  • 19
    • 84873988238 scopus 로고    scopus 로고
    • Strategies in the treatment of GAMT deficiency
    • Jakobs, C., and Stoeckler- Ipsiroglu, S., eds., Verhoeven, N.M., and Salomons, G.S., co-eds., 1st ed., SPS Verlagsgesellschaft, Heilbronn, Germany
    • Schulze, A., 2005, Strategies in the treatment of GAMT deficiency. In: Jakobs, C., and Stoeckler- Ipsiroglu, S., eds., Verhoeven, N.M., and Salomons, G.S., co-eds., Clinical and molecular aspects of defects in creatine & polyol metabolism, 1st ed., SPS Verlagsgesellschaft, Heilbronn, Germany, pp. 19-33.
    • (2005) Clinical and molecular aspects of defects in creatine & polyol metabolism , pp. 19-33
    • Schulze, A.1
  • 20
    • 0037306564 scopus 로고    scopus 로고
    • Creatine deficiency syndromes
    • Schulze, A., 2003, Creatine deficiency syndromes. Mol. Cell. Biochem. 244: 143-150.
    • (2003) Mol. Cell. Biochem. , vol.244 , pp. 143-150
    • Schulze, A.1
  • 23
    • 0035694594 scopus 로고    scopus 로고
    • Improving treatment of guanidinoacetate methyltransferase deficiency: Reduction of guanidinoacetic acid in body fluids by arginine restriction and ornithine supplementation
    • Schulze, A., Ebinger, F., Rating, D., and Mayatepek, E., 2001, Improving treatment of guanidinoacetate methyltransferase deficiency: reduction of guanidinoacetic acid in body fluids by arginine restriction and ornithine supplementation. Mol. Genet. Metab. 74: 413-419.
    • (2001) Mol. Genet. Metab. , vol.74 , pp. 413-419
    • Schulze, A.1    Ebinger, F.2    Rating, D.3    Mayatepek, E.4
  • 24
    • 0031457381 scopus 로고    scopus 로고
    • Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: Diagnostic tools for a new inborn error of metabolism
    • Schulze, A., Hess, T., Wevers, R., Mayatepek, E., Bachert, P., Marescau, B., Knopp, M.V., De Deyn, P.P., Bremer, H.J., and Rating, D., 1997, Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism. J. Pediatr. 131: 626-631.
    • (1997) J. Pediatr. , vol.131 , pp. 626-631
    • Schulze, A.1    Hess, T.2    Wevers, R.3    Mayatepek, E.4    Bachert, P.5    Marescau, B.6    Knopp, M.V.7    De Deyn, P.P.8    Bremer, H.J.9    Rating, D.10
  • 27
    • 0030833384 scopus 로고    scopus 로고
    • Guanidino compounds in guanidinoacetate methyltransferase deficiency, a new inborn error of creatine synthesis
    • Stöckler, S., Marescau, B., DeDeyn, P.P., Trijbels, J.M.F., and Hanefeld, F., 1997, Guanidino compounds in guanidinoacetate methyltransferase deficiency, a new inborn error of creatine synthesis. Metabolism 46: 1189-1193.
    • (1997) Metabolism , vol.46 , pp. 1189-1193
    • Stöckler, S.1    Marescau, B.2    DeDeyn, P.P.3    Trijbels, J.M.F.4    Hanefeld, F.5
  • 28
    • 84889977018 scopus 로고    scopus 로고
    • Disorders of creatine metabolism
    • Blau, N., Hoffmann, G.F., Leonard, J., and Clarke, J.T.R., eds., 1st ed., Springer-Verlag, Berlin, Heidelberg, New York
    • Stoeckler-Ipsiroglu, S., Battini, R., DeGrauw, T., and Schulze, A., 2006, Disorders of creatine metabolism. In: Blau, N., Hoffmann, G.F., Leonard, J., and Clarke, J.T.R., eds., Physician's Guide to the Treatment and Follow-Up of Metabolic Diseases, 1st ed., Springer-Verlag, Berlin, Heidelberg, New York, pp. 255-265.
    • (2006) Physician's Guide to the Treatment and Follow-Up of Metabolic Diseases , pp. 255-265
    • Stoeckler-Ipsiroglu, S.1    Battini, R.2    DeGrauw, T.3    Schulze, A.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.