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.
142 related articles for article (PubMed ID: 16293431)
1. A mutation on exon 6 of guanidinoacetate methyltransferase (GAMT) gene supports a different function for isoform a and b of GAMT enzyme. Leuzzi V; Carducci C; Carducci C; Matricardi M; Bianchi MC; Di Sabato ML; Artiola C; Antonozzi I Mol Genet Metab; 2006 Jan; 87(1):88-90. PubMed ID: 16293431 [TBL] [Abstract][Full Text] [Related]
12. 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]
13. Guanidinoacetate methyltransferase (GAMT) deficiency diagnosed by proton NMR spectroscopy of body fluids. Engelke UF; Tassini M; Hayek J; de Vries M; Bilos A; Vivi A; Valensin G; Buoni S; Zannolli R; Brussel W; Kremer B; Salomons GS; Veendrick-Meekes MJ; Kluijtmans LA; Morava E; Wevers RA NMR Biomed; 2009 Jun; 22(5):538-44. PubMed ID: 19288536 [TBL] [Abstract][Full Text] [Related]
14. Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene. Mercimek-Mahmutoglu S; Ndika J; Kanhai W; de Villemeur TB; Cheillan D; Christensen E; Dorison N; Hannig V; Hendriks Y; Hofstede FC; Lion-Francois L; Lund AM; Mundy H; Pitelet G; Raspall-Chaure M; Scott-Schwoerer JA; Szakszon K; Valayannopoulos V; Williams M; Salomons GS Hum Mutat; 2014 Apr; 35(4):462-9. PubMed ID: 24415674 [TBL] [Abstract][Full Text] [Related]
15. Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency. Dhar SU; Scaglia F; Li FY; Smith L; Barshop BA; Eng CM; Haas RH; Hunter JV; Lotze T; Maranda B; Willis M; Abdenur JE; Chen E; O'Brien W; Wong LJ Mol Genet Metab; 2009 Jan; 96(1):38-43. PubMed ID: 19027335 [TBL] [Abstract][Full Text] [Related]
16. Successful treatment of a guanidinoacetate methyltransferase deficient patient: findings with relevance to treatment strategy and pathophysiology. Verbruggen KT; Sijens PE; Schulze A; Lunsing RJ; Jakobs C; Salomons GS; van Spronsen FJ Mol Genet Metab; 2007 Jul; 91(3):294-6. PubMed ID: 17466557 [TBL] [Abstract][Full Text] [Related]
17. 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]
18. Biochemical and clinical characteristics of creatine deficiency syndromes. Sykut-Cegielska J; Gradowska W; Mercimek-Mahmutoglu S; Stöckler-Ipsiroglu S Acta Biochim Pol; 2004; 51(4):875-82. PubMed ID: 15625559 [TBL] [Abstract][Full Text] [Related]
19. Phosphorylated guanidinoacetate partly compensates for the lack of phosphocreatine in skeletal muscle of mice lacking guanidinoacetate methyltransferase. Kan HE; Renema WK; Isbrandt D; Heerschap A J Physiol; 2004 Oct; 560(Pt 1):219-29. PubMed ID: 15284341 [TBL] [Abstract][Full Text] [Related]
20. [(1)H] magnetic resonance spectroscopy of urine: diagnosis of a guanidinoacetate methyl transferase deficiency case. Tassini M; Zannolli R; Buoni S; Engelke U; Vivi A; Valensin G; Salomons GS; De Nicola A; Strambi M; Monti L; Morava E; Wevers RA; Hayek J J Child Neurol; 2010 Jan; 25(1):98-101. PubMed ID: 19461121 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]