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Volumn 48, Issue 10, 2002, Pages 1772-1778

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

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE; CREATININE; GLYCINE AMIDINOTRANSFERASE; GUANIDINOACETATE METHYLTRANSFERASE; GUANIDINOACETIC ACID; METHYLTRANSFERASE; UNCLASSIFIED DRUG;

EID: 0036792323     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1093/clinchem/48.10.1772     Document Type: Article
Times cited : (58)

References (23)
  • 1
    • 0018373246 scopus 로고
    • Creatine: Biosynthesis, regulation, and function
    • Walker JB. Creatine: biosynthesis, regulation, and function. Adv Enzymol 1979;50:177-242.
    • (1979) Adv Enzymol , vol.50 , pp. 177-242
    • Walker, J.B.1
  • 2
    • 0033935979 scopus 로고    scopus 로고
    • Creatine and creatine metabolism
    • Wyss M, Kaddurah-Daouk R. Creatine and creatine metabolism. Physiol Rev 2000;80:1107-213.
    • (2000) Physiol Rev , vol.80 , pp. 1107-1213
    • Wyss, M.1    Kaddurah-Daouk, R.2
  • 4
    • 0029959969 scopus 로고    scopus 로고
    • Guanidinoacetate methyltransferase deficiency: The first inborn error of creatine metabolism in man
    • Stöckler S, Isbrandt D, Hanefeld F, Schmidt B, von Figura K. Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man. Am J Hum Genet 1996;58:914-22.
    • (1996) Am J Hum Genet , vol.58 , pp. 914-922
    • Stöckler, S.1    Isbrandt, D.2    Hanefeld, F.3    Schmidt, B.4    Von Figura, K.5
  • 5
    • 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, et al. Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism. J Pediatr 1997;131:626-31.
    • (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
  • 8
    • 0034649446 scopus 로고    scopus 로고
    • Brain creatine depletion: Guanidinoacetate methyltransferase deficiency (improving with creatine supplementation)
    • Leuzzi V, Bianchi MC, Tosetti M, Carducci C, Cerquiglini CA, Cioni G, et al. Brain creatine depletion: guanidinoacetate methyltransferase deficiency (improving with creatine supplementation). Neurology 2000;55:1407-9.
    • (2000) Neurology , vol.55 , pp. 1407-1409
    • Leuzzi, V.1    Bianchi, M.C.2    Tosetti, M.3    Carducci, C.4    Cerquiglini, C.A.5    Cioni, G.6
  • 12
    • 0035098030 scopus 로고    scopus 로고
    • Irreversible brain creatine deficiency with elevated serum and urine creatine: A creatine transporter defect?
    • Cecil KM, Salomons GS, Ball WS, Wong B, Chuck G, Verhoeven NM, et al. Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect? Ann Neurol 2001;49:401-4.
    • (2001) Ann Neurol , vol.49 , pp. 401-404
    • Cecil, K.M.1    Salomons, G.S.2    Ball, W.S.3    Wong, B.4    Chuck, G.5    Verhoeven, N.M.6
  • 14
    • 0030833384 scopus 로고    scopus 로고
    • Guanidino compounds in guanidinoacetate methyltransferase deficiency, a new inborn error of creatine synthesis
    • Stöckler S, Marescau B, De Deyn PP, Trijbels JM, Hanefeld F. Guanidino compounds in guanidinoacetate methyltransferase deficiency, a new inborn error of creatine synthesis. Metabolism 1997;46:1189-93.
    • (1997) Metabolism , vol.46 , pp. 1189-1193
    • Stöckler, S.1    Marescau, B.2    De Deyn, P.P.3    Trijbels, J.M.4    Hanefeld, F.5
  • 16
    • 0035810739 scopus 로고    scopus 로고
    • Automated high-performance liquid chromatographic method for the determination of guanidinoacetic acid in dried blood spots: A tool for early diagnosis of guanidinoacetate methyltransferase deficiency
    • Carducci C, Birarelli M, Santagata P, Leuzzi V, Carducci C, Antonozzi I. Automated high-performance liquid chromatographic method for the determination of guanidinoacetic acid in dried blood spots: a tool for early diagnosis of guanidinoacetate methyltransferase deficiency. J Chromatogr B Biomed Sci Appl 2001;755:343-8.
    • (2001) J Chromatogr B Biomed Sci Appl , vol.755 , pp. 343-348
    • Carducci, C.1    Birarelli, M.2    Santagata, P.3    Leuzzi, V.4    Carducci, C.5    Antonozzi, I.6
  • 17
    • 0029834779 scopus 로고    scopus 로고
    • Sakaguchi reaction: A useful method for screening guanidinoacetate-methyltransferase deficiency
    • Schulze A, Mayatepek E, Rating D, Bremer HJ. Sakaguchi reaction: a useful method for screening guanidinoacetate-methyltransferase deficiency. J Inherit Metab Dis 1996;19:706.
    • (1996) J Inherit Metab Dis , vol.19 , pp. 706
    • Schulze, A.1    Mayatepek, E.2    Rating, D.3    Bremer, H.J.4
  • 18
    • 0030759324 scopus 로고    scopus 로고
    • GC-MS determination of guanidinoacetate in urine and plasma
    • Hunneman DH, Hanefeld F. GC-MS determination of guanidinoacetate in urine and plasma. J Inherit Metab Dis 1997;20:450-2.
    • (1997) J Inherit Metab Dis , vol.20 , pp. 450-452
    • Hunneman, D.H.1    Hanefeld, F.2
  • 19
    • 0032446322 scopus 로고    scopus 로고
    • An accurate stable isotope dilution gas chromatographic-mass spectrometric approach to the diagnosis of guanidinoacetate methyltransferase deficiency
    • Struys EA, Jansen EE, ten Brink HJ, Verhoeven NM, van der Knaap MS, Jakobs C. An accurate stable isotope dilution gas chromatographic-mass spectrometric approach to the diagnosis of guanidinoacetate methyltransferase deficiency. J Pharm Biomed Anal 1998;18:659-65.
    • (1998) J Pharm Biomed Anal , vol.18 , pp. 659-665
    • Struys, E.A.1    Jansen, E.E.2    Ten Brink, H.J.3    Verhoeven, N.M.4    Van der Knaap, M.S.5    Jakobs, C.6
  • 20
    • 0034971857 scopus 로고    scopus 로고
    • Analysis of guanidinoacetate and creatine by isotope dilution electrospray tandem mass spectrometry
    • Bodamer OA, Bloesch SM, Gregg AR, Stockler-Ipsiroglu S, O'Brien WE. Analysis of guanidinoacetate and creatine by isotope dilution electrospray tandem mass spectrometry. Clin Chim Acta 2001; 308:173-8.
    • (2001) Clin Chim Acta , vol.308 , pp. 173-178
    • Bodamer, O.A.1    Bloesch, S.M.2    Gregg, A.R.3    Stockler-Ipsiroglu, S.4    O'Brien, W.E.5
  • 21
    • 0019865856 scopus 로고
    • Post-column derivatization of guanidino compounds in high-performance liquid chromatography using ninhydrin
    • Hiraga Y, Konoshita T. Post-column derivatization of guanidino compounds in high-performance liquid chromatography using ninhydrin. J Chromatogr 1981;226:43-51.
    • (1981) J Chromatogr , vol.226 , pp. 43-51
    • Hiraga, Y.1    Konoshita, T.2
  • 22
    • 0026723952 scopus 로고
    • Guanidino compounds in serum, urine, liver, kidney, and brain of man and some ureotelic animals
    • Marescau B, Deshmukh DR, Kockx M, Possemiers I, Qureshi IA, Wiechert P, et al. Guanidino compounds in serum, urine, liver, kidney, and brain of man and some ureotelic animals. Metabolism 1992;41:526-32.
    • (1992) Metabolism , vol.41 , pp. 526-532
    • Marescau, B.1    Deshmukh, D.R.2    Kockx, M.3    Possemiers, I.4    Qureshi, I.A.5    Wiechert, P.6
  • 23
    • 0343550351 scopus 로고    scopus 로고
    • Guanidinoacetate methyltransferase (GAMT) deficiency: Non-invasive enzymatic diagnosis of a new recognised inborn error of metabolism
    • Ilas J, Muhl A, Stöckler-Ipsiroglu S. Guanidinoacetate methyltransferase (GAMT) deficiency: non-invasive enzymatic diagnosis of a new recognised inborn error of metabolism. Clin Chim Acta 2000;290:179-88.
    • (2000) Clin Chim Acta , vol.290 , pp. 179-188
    • Ilas, J.1    Muhl, A.2    Stöckler-Ipsiroglu, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.