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Volumn 22, Issue 6, 2007, Pages 773-774

Severe speech delay as the presenting symptom of guanidinoacetate methyltransferase deficiency

Author keywords

Creatine; Guanidinoacetate methyltransferase deficiency; Seizures; Speech delay

Indexed keywords

CREATINE; GUANIDINOACETATE METHYLTRANSFERASE;

EID: 34447120039     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/0883073807304015     Document Type: Article
Times cited : (18)

References (8)
  • 1
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    • Creatine deficiency in the brain: A new, treatable inborn error of metabolism
    • Stockler S., Holzbach U., Hanefeld F., et al. Creatine deficiency in the brain: A new, treatable inborn error of metabolism. Pediatr Res. 1994;36:409-413.
    • (1994) Pediatr Res , vol.36 , pp. 409-413
    • Stockler, S.1    Holzbach, U.2    Hanefeld, F.3
  • 2
    • 0029959969 scopus 로고    scopus 로고
    • Guanidinoacetate methyltransferase deficiency: The first inborn error of creatine metabolism in man
    • Stockler 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;58:914-922.
    • (1996) Am J Hum Genet , vol.58 , pp. 914-922
    • Stockler, S.1    Isbrandt, D.2    Hanefeld, F.3    Schmidt, B.4    von Figura, K.5
  • 4
    • 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., et al. Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: Diagnostic tools for a new inborn error of metabolism. J Pediatr. 1997;131:626-631.
    • (1997) J Pediatr , vol.131 , pp. 626-631
    • Schulze, A.1    Hess, T.2    Wevers, R.3
  • 5
    • 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;308:173-178.
    • (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
  • 6
    • 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., et al. Quantitative determination of guanidinoacetate and creatine in dried blood spot by flow injection analysis-electrospray tandem mass spectrometry. Clin Chim Acta. 2006;364:180-187.
    • (2006) Clin Chim Acta , vol.364 , pp. 180-187
    • Carducci, C.1    Santagata, S.2    Leuzzi, V.3
  • 7
    • 26244454610 scopus 로고    scopus 로고
    • Use of denaturing HPLC to provide efficient detection of mutations causing guanidinoacetate methyltransferase deficiency
    • Item CB, Stockler-Ipsiroglu S., Willheim C., Muhl A., Bodamer OA Use of denaturing HPLC to provide efficient detection of mutations causing guanidinoacetate methyltransferase deficiency. Mol Genet Metab. 2005;86:328-334.
    • (2005) Mol Genet Metab , vol.86 , pp. 328-334
    • Item, C.B.1    Stockler-Ipsiroglu, S.2    Willheim, C.3    Muhl, A.4    Bodamer, O.A.5
  • 8
    • 0037306564 scopus 로고    scopus 로고
    • Creatine deficiency syndromes
    • Schulze A. Creatine deficiency syndromes. Mol Cell Biochem. 2003;244:143-150.
    • (2003) Mol Cell Biochem , vol.244 , pp. 143-150
    • Schulze, A.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.