These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
2. Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport. Almeida LS; Verhoeven NM; Roos B; Valongo C; Cardoso ML; Vilarinho L; Salomons GS; Jakobs C Mol Genet Metab; 2004 Jul; 82(3):214-9. PubMed ID: 15234334 [TBL] [Abstract][Full Text] [Related]
3. Guanidinoacetate and creatine/creatinine levels in controls and patients with urea cycle defects. Arias A; Garcia-Villoria J; Ribes A Mol Genet Metab; 2004 Jul; 82(3):220-3. PubMed ID: 15234335 [TBL] [Abstract][Full Text] [Related]
4. High cerebral guanidinoacetate and variable creatine concentrations in argininosuccinate synthetase and lyase deficiency: implications for treatment? van Spronsen FJ; Reijngoud DJ; Verhoeven NM; Soorani-Lunsing RJ; Jakobs C; Sijens PE Mol Genet Metab; 2006 Nov; 89(3):274-6. PubMed ID: 16580861 [TBL] [Abstract][Full Text] [Related]
5. Diagnosis and therapeutic monitoring of inborn errors of creatine metabolism and transport using liquid chromatography-tandem mass spectrometry in urine, plasma and CSF. Haas D; Gan-Schreier H; Langhans CD; Anninos A; Haege G; Burgard P; Schulze A; Hoffmann GF; Okun JG Gene; 2014 Mar; 538(1):188-94. PubMed ID: 24440240 [TBL] [Abstract][Full Text] [Related]
6. Simultaneous determination of guanidinoacetate, creatine and creatinine in urine and plasma by un-derivatized liquid chromatography-tandem mass spectrometry. Carling RS; Hogg SL; Wood TC; Calvin J Ann Clin Biochem; 2008 Nov; 45(Pt 6):575-84. PubMed ID: 18782816 [TBL] [Abstract][Full Text] [Related]
7. 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; Antonozzi I Clin Chem; 2002 Oct; 48(10):1772-8. PubMed ID: 12324495 [TBL] [Abstract][Full Text] [Related]
8. Creatine and creatine deficiency syndromes: biochemical and clinical aspects. Nasrallah F; Feki M; Kaabachi N Pediatr Neurol; 2010 Mar; 42(3):163-71. PubMed ID: 20159424 [TBL] [Abstract][Full Text] [Related]
9. Determination of guanidinoacetate and creatine in urine and plasma by liquid chromatography-tandem mass spectrometry. Cognat S; Cheillan D; Piraud M; Roos B; Jakobs C; Vianey-Saban C Clin Chem; 2004 Aug; 50(8):1459-61. PubMed ID: 15277360 [No Abstract] [Full Text] [Related]
10. Guanidinoacetate methyltransferase (GAMT) deficiency in two Tunisian siblings: clinical and biochemical features. Nasrallah F; Kraoua I; Joncquel-Chevalier Curt M; Bout MA; Taieb SH; Feki M; Khouja N; Briand G; Kaabachi N Clin Lab; 2012; 58(5-6):427-32. PubMed ID: 22783571 [TBL] [Abstract][Full Text] [Related]
12. Analysis of guanidinoacetate and creatine by isotope dilution electrospray tandem mass spectrometry. Bodamer OA; Bloesch SM; Gregg AR; Stockler-Ipsiroglu S; O'Brien WE Clin Chim Acta; 2001 Jun; 308(1-2):173-8. PubMed ID: 11412830 [TBL] [Abstract][Full Text] [Related]
13. Guanidino compounds in guanidinoacetate methyltransferase deficiency, a new inborn error of creatine synthesis. Stöckler S; Marescau B; De Deyn PP; Trijbels JM; Hanefeld F Metabolism; 1997 Oct; 46(10):1189-93. PubMed ID: 9322805 [TBL] [Abstract][Full Text] [Related]
14. Diagnosis of creatine metabolism disorders by determining creatine and guanidinoacetate in plasma and urine. Sun Q; O'Brien WE Methods Mol Biol; 2010; 603():175-85. PubMed ID: 20077070 [TBL] [Abstract][Full Text] [Related]
15. Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide. Stockler-Ipsiroglu S; Apatean D; Battini R; DeBrosse S; Dessoffy K; Edvardson S; Eichler F; Johnston K; Koeller DM; Nouioua S; Tazir M; Verma A; Dowling MD; Wierenga KJ; Wierenga AM; Zhang V; Wong LJ Mol Genet Metab; 2015 Dec; 116(4):252-9. PubMed ID: 26490222 [TBL] [Abstract][Full Text] [Related]
19. 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 MV; De Deyn PP; Bremer HJ; Rating D J Pediatr; 1997 Oct; 131(4):626-31. PubMed ID: 9386672 [TBL] [Abstract][Full Text] [Related]
20. Disorders of creatine transport and metabolism. Longo N; Ardon O; Vanzo R; Schwartz E; Pasquali M Am J Med Genet C Semin Med Genet; 2011 Feb; 157C(1):72-8. PubMed ID: 21308988 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]