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Items: 1 to 20 of 193

1.

Severely altered guanidino compound levels, disturbed body weight homeostasis and impaired fertility in a mouse model of guanidinoacetate N-methyltransferase (GAMT) deficiency.

Schmidt A, Marescau B, Boehm EA, Renema WK, Peco R, Das A, Steinfeld R, Chan S, Wallis J, Davidoff M, Ullrich K, Waldschütz R, Heerschap A, De Deyn PP, Neubauer S, Isbrandt D.

Hum Mol Genet. 2004 May 1;13(9):905-21. Epub 2004 Mar 17.

PMID:
15028668
2.

Biochemical and behavioural phenotyping of a mouse model for GAMT deficiency.

Torremans A, Marescau B, Possemiers I, Van Dam D, D'Hooge R, Isbrandt D, De Deyn PP.

J Neurol Sci. 2005 Apr 15;231(1-2):49-55.

PMID:
15792821
3.
4.

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.

PMID:
9322805
5.

Guanidinoacetate methyltransferase deficiency: differences of creatine uptake in human brain and muscle.

Ensenauer R, Thiel T, Schwab KO, Tacke U, Stöckler-Ipsiroglu S, Schulze A, Hennig J, Lehnert W.

Mol Genet Metab. 2004 Jul;82(3):208-13.

PMID:
15234333
6.

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.

PMID:
9386672
7.

MR spectroscopy of muscle and brain in guanidinoacetate methyltransferase (GAMT)-deficient mice: validation of an animal model to study creatine deficiency.

Renema WK, Schmidt A, van Asten JJ, Oerlemans F, Ullrich K, Wieringa B, Isbrandt D, Heerschap A.

Magn Reson Med. 2003 Nov;50(5):936-43.

8.

Lack of creatine in muscle and brain in an adult with GAMT deficiency.

Schulze A, Bachert P, Schlemmer H, Harting I, Polster T, Salomons GS, Verhoeven NM, Jakobs C, Fowler B, Hoffmann GF, Mayatepek E.

Ann Neurol. 2003 Feb;53(2):248-51.

PMID:
12557293
9.

Lower force and impaired performance during high-intensity electrical stimulation in skeletal muscle of GAMT-deficient knockout mice.

Kan HE, Buse-Pot TE, Peco R, Isbrandt D, Heerschap A, de Haan A.

Am J Physiol Cell Physiol. 2005 Jul;289(1):C113-9. Epub 2005 Mar 2.

10.

Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation.

Caldeira Araújo H, Smit W, Verhoeven NM, Salomons GS, Silva S, Vasconcelos R, Tomás H, Tavares de Almeida I, Jakobs C, Duran M.

Am J Med Genet A. 2005 Mar 1;133A(2):122-7.

PMID:
15651030
11.
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. doi: 10.1002/nbm.1367.

PMID:
19288536
14.

Creatine uptake in brain and skeletal muscle of mice lacking guanidinoacetate methyltransferase assessed by magnetic resonance spectroscopy.

Kan HE, Meeuwissen E, van Asten JJ, Veltien A, Isbrandt D, Heerschap A.

J Appl Physiol (1985). 2007 Jun;102(6):2121-7. Epub 2007 Mar 8.

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17.

Catalytic mechanism of guanidinoacetate methyltransferase: crystal structures of guanidinoacetate methyltransferase ternary complexes.

Komoto J, Yamada T, Takata Y, Konishi K, Ogawa H, Gomi T, Fujioka M, Takusagawa F.

Biochemistry. 2004 Nov 16;43(45):14385-94.

PMID:
15533043
18.

Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man.

Stöckler S, Isbrandt D, Hanefeld F, Schmidt B, von Figura K.

Am J Hum Genet. 1996 May;58(5):914-22.

19.

In vivo magnetic resonance spectroscopy of transgenic mice with altered expression of guanidinoacetate methyltransferase and creatine kinase isoenzymes.

Heerschap A, Kan HE, Nabuurs CI, Renema WK, Isbrandt D, Wieringa B.

Subcell Biochem. 2007;46:119-48. Review.

PMID:
18652075

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