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Results: 1 to 20 of 22

1.

Case study for the evaluation of current treatment recommendations of guanidinoacetate methyltransferase deficiency: ineffectiveness of sodium benzoate.

Mercimek-Mahmutoglu S, Salomons GS, Chan A.

Pediatr Neurol. 2014 Jul;51(1):133-7. doi: 10.1016/j.pediatrneurol.2014.02.011. Epub 2014 Feb 21.

PMID:
24766785
2.

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. doi: 10.1002/humu.22511. Epub 2014 Mar 6.

PMID:
24415674
3.

Evidence-based treatment of guanidinoacetate methyltransferase (GAMT) deficiency.

Viau KS, Ernst SL, Pasquali M, Botto LD, Hedlund G, Longo N.

Mol Genet Metab. 2013 Nov;110(3):255-62. doi: 10.1016/j.ymgme.2013.08.020. Epub 2013 Sep 8.

PMID:
24071436
4.

Homoarginine levels are regulated by L-arginine:glycine amidinotransferase and affect stroke outcome: results from human and murine studies.

Choe CU, Atzler D, Wild PS, Carter AM, Böger RH, Ojeda F, Simova O, Stockebrand M, Lackner K, Nabuurs C, Marescau B, Streichert T, Müller C, Lüneburg N, De Deyn PP, Benndorf RA, Baldus S, Gerloff C, Blankenberg S, Heerschap A, Grant PJ, Magnus T, Zeller T, Isbrandt D, Schwedhelm E.

Circulation. 2013 Sep 24;128(13):1451-61. doi: 10.1161/CIRCULATIONAHA.112.000580. Epub 2013 Sep 4.

5.

Does TP53 mutation promote ovarian cancer metastasis to omentum by regulating lipid metabolism?

Hu J, Liu Z, Wang X.

Med Hypotheses. 2013 Oct;81(4):515-20. doi: 10.1016/j.mehy.2013.06.009. Epub 2013 Jul 20.

PMID:
23880140
6.

Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes.

Comeaux MS, Wang J, Wang G, Kleppe S, Zhang VW, Schmitt ES, Craigen WJ, Renaud D, Sun Q, Wong LJ.

Mol Genet Metab. 2013 Jul;109(3):260-8. doi: 10.1016/j.ymgme.2013.04.006. Epub 2013 Apr 17.

PMID:
23660394
7.

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.

Mol Genet Metab. 2012 Nov;107(3):433-7. doi: 10.1016/j.ymgme.2012.07.022. Epub 2012 Aug 3.

PMID:
23031365
8.

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.

PMID:
22783571
9.

Identification of c-myc-dependent proteins in the medulloblastoma cell line D425Med.

Azizi AA, Li L, Ströbel T, Chen WQ, Slavc I, Lubec G.

Amino Acids. 2012 Jun;42(6):2149-63. doi: 10.1007/s00726-011-0953-8. Epub 2011 Jun 12.

PMID:
21667264
11.

Defining the pathogenicity of creatine deficiency syndrome.

Alcaide P, Merinero B, Ruiz-Sala P, Richard E, Navarrete R, Arias A, Ribes A, Artuch R, Campistol J, Ugarte M, Rodríguez-Pombo P.

Hum Mutat. 2011 Mar;32(3):282-91. doi: 10.1002/humu.21421. Epub 2011 Feb 8.

PMID:
21140503
12.

GAMT, a p53-inducible modulator of apoptosis, is critical for the adaptive response to nutrient stress.

Ide T, Brown-Endres L, Chu K, Ongusaha PP, Ohtsuka T, El-Deiry WS, Aaronson SA, Lee SW.

Mol Cell. 2009 Nov 13;36(3):379-92. doi: 10.1016/j.molcel.2009.09.031. Retraction in: Mol Cell. 2013 Aug 22;51(4):552.

13.

The reaction mechanism of phenylethanolamine N-methyltransferase: a density functional theory study.

Georgieva P, Wu Q, McLeish MJ, Himo F.

Biochim Biophys Acta. 2009 Dec;1794(12):1831-7. doi: 10.1016/j.bbapap.2009.08.022. Epub 2009 Sep 3.

14.

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. doi: 10.1016/j.ymgme.2008.10.008. Epub 2008 Nov 21.

PMID:
19027335
15.

Expression and function of AGAT, GAMT and CT1 in the mammalian brain.

Braissant O, Bachmann C, Henry H.

Subcell Biochem. 2007;46:67-81. Review.

PMID:
18652072
16.

AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: a review.

Braissant O, Henry H.

J Inherit Metab Dis. 2008 Apr;31(2):230-9. doi: 10.1007/s10545-008-0826-9. Epub 2008 Apr 4. Review.

PMID:
18392746
17.

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.

Mol Genet Metab. 2007 May;91(1):1-6. Epub 2007 Mar 1.

PMID:
17336114
18.

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.

J Inherit Metab Dis. 2007 Feb;30(1):100. Epub 2006 Dec 14.

PMID:
17171576
19.

Overexpression of GAMT restores GAMT activity in primary GAMT-deficient fibroblasts.

Almeida LS, Rosenberg EH, Martinez-Muñoz C, Verhoeven NM, Vilarinho L, Jakobs C, Salomons GS.

Mol Genet Metab. 2006 Dec;89(4):392-4. Epub 2006 Aug 8.

PMID:
16899382
20.

Novel genomic loci influencing plasma homocysteine levels.

Kullo IJ, Ding K, Boerwinkle E, Turner ST, Mosley TH Jr, Kardia SL, de Andrade M.

Stroke. 2006 Jul;37(7):1703-9. Epub 2006 Jun 1.

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