PubMed for id: 2593

Year	Number of Results
1993	2
1995	1
1996	1
1997	2
1998	1
1999	1
2000	1
2002	1
2003	1
2004	2
2006	2
2007	2
2008	1
2009	5
2010	1
2011	5
2012	1
2013	1
2014	1
2015	4
2016	1
2017	4
2018	1
2019	1
2020	2
2021	3
2022	7
2023	1
2024	0

1

Elastic net-based identification of GAMT as potential diagnostic marker for early-stage gastric cancer.

Gong C, Zhou M, Hu Y, Ren Z, Ren J, Yao M. Gong C, et al. Biochem Biophys Res Commun. 2022 Feb 5;591:7-12. doi: 10.1016/j.bbrc.2021.12.055. Epub 2021 Dec 21. Biochem Biophys Res Commun. 2022. PMID: 34990904

2

A novel mutation in two cousins with guanidinoacetate methyltransferase (GAMT) deficiency presented with autism.

Aydın Hİ, Sönmez FM. Aydın Hİ, et al. Turk J Pediatr. 2019;61(1):92-96. doi: 10.24953/turkjped.2019.01.014. Turk J Pediatr. 2019. PMID: 31559727 Free article.

3

A pilot study to estimate incidence of guanidinoacetate methyltransferase deficiency in newborns by direct sequencing of the GAMT gene.

Mercimek-Mahmutoglu S, Pop A, Kanhai W, Fernandez Ojeda M, Holwerda U, Smith D, Loeber JG, Schielen PC, Salomons GS. Mercimek-Mahmutoglu S, et al. Gene. 2016 Jan 1;575(1):127-31. doi: 10.1016/j.gene.2015.08.045. Epub 2015 Aug 28. Gene. 2016. PMID: 26319512 Clinical Trial.

4

Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene.

Desroches CL, Patel J, Wang P, Minassian B, Marshall CR, Salomons GS, Mercimek-Mahmutoglu S. Desroches CL, et al. Mol Genet Genomics. 2015 Dec;290(6):2163-71. doi: 10.1007/s00438-015-1067-x. Epub 2015 May 24. Mol Genet Genomics. 2015. PMID: 26003046

5

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. Mercimek-Mahmutoglu S, et al. Hum Mutat. 2014 Apr;35(4):462-9. doi: 10.1002/humu.22511. Epub 2014 Mar 6. Hum Mutat. 2014. PMID: 24415674

6

Guanidinoacetate methyltransferase deficiency: first steps to newborn screening for a treatable neurometabolic disease.

Mercimek-Mahmutoglu S, Sinclair G, van Dooren SJ, Kanhai W, Ashcraft P, Michel OJ, Nelson J, Betsalel OT, Sweetman L, Jakobs C, Salomons GS. Mercimek-Mahmutoglu S, et al. Mol Genet Metab. 2012 Nov;107(3):433-7. doi: 10.1016/j.ymgme.2012.07.022. Epub 2012 Aug 3. Mol Genet Metab. 2012. PMID: 23031365

7

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. Engelke UF, et al. NMR Biomed. 2009 Jun;22(5):538-44. doi: 10.1002/nbm.1367. NMR Biomed. 2009. PMID: 19288536

8

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. Dhar SU, et al. Mol Genet Metab. 2009 Jan;96(1):38-43. doi: 10.1016/j.ymgme.2008.10.008. Epub 2008 Nov 21. Mol Genet Metab. 2009. PMID: 19027335

9

A prevalent pathogenic GAMT mutation (c.59G>C) in Portugal.

Almeida LS, Vilarinho L, Darmin PS, Rosenberg EH, Martinez-Muñoz C, Jakobs C, Salomons GS. Almeida LS, et al. Mol Genet Metab. 2007 May;91(1):1-6. doi: 10.1016/j.ymgme.2007.01.005. Epub 2007 Mar 1. Mol Genet Metab. 2007. PMID: 17336114

10

Guanidinoacetate methyltransferase deficiency masquerading as a mitochondrial encephalopathy.

Morris AA, Appleton RE, Power B, Isherwood DM, Abernethy LJ, Taylor RW, Turnbull DM, Verhoeven NM, Salomons GS, Jakobs C. Morris AA, et al. J Inherit Metab Dis. 2007 Feb;30(1):100. doi: 10.1007/s10545-006-0478-2. Epub 2006 Dec 14. J Inherit Metab Dis. 2007. PMID: 17171576

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