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Journal Abstract Search

311 related items for PubMed ID: 24071436

  • 1. 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. PubMed ID: 24071436
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  • 2. Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring.
    Stockler-Ipsiroglu S, van Karnebeek C, Longo N, Korenke GC, Mercimek-Mahmutoglu S, Marquart I, Barshop B, Grolik C, Schlune A, Angle B, Araújo HC, Coskun T, Diogo L, Geraghty M, Haliloglu G, Konstantopoulou V, Leuzzi V, Levtova A, Mackenzie J, Maranda B, Mhanni AA, Mitchell G, Morris A, Newlove T, Renaud D, Scaglia F, Valayannopoulos V, van Spronsen FJ, Verbruggen KT, Yuskiv N, Nyhan W, Schulze A.
    Mol Genet Metab; 2014 Jan; 111(1):16-25. PubMed ID: 24268530
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  • 3. 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. PubMed ID: 24766785
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  • 5. Cerebral creatine deficiencies: a group of treatable intellectual developmental disorders.
    Stockler-Ipsiroglu S, van Karnebeek CD.
    Semin Neurol; 2014 Jul; 34(3):350-6. PubMed ID: 25192512
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  • 7. 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.
    Gene; 2016 Jan 01; 575(1):127-31. PubMed ID: 26319512
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  • 8. Review: Human guanidinoacetate n-methyl transferase (GAMT) deficiency: A treatable inborn error of metabolism.
    Iqbal F.
    Pak J Pharm Sci; 2015 Nov 01; 28(6):2207-11. PubMed ID: 26639513
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  • 11. 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 01; 35(4):462-9. PubMed ID: 24415674
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  • 13. Evidence and Recommendation for Guanidinoacetate Methyltransferase Deficiency Newborn Screening.
    Ream MA, Lam WKK, Grosse SD, Ojodu J, Jones E, Prosser LA, Rose AM, Comeau AM, Tanksley S, Powell CM, Kemper AR.
    Pediatrics; 2023 Aug 01; 152(2):. PubMed ID: 37465909
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  • 16. [Cerebral creatine deficiency syndromes].
    Malheiro R, Diogo L, Garcia P, Fineza I, Oliveira G.
    Acta Med Port; 2012 Aug 01; 25(6):389-98. PubMed ID: 23534590
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  • 17. GAMT deficiency: 20 years of a treatable inborn error of metabolism.
    Braissant O.
    Mol Genet Metab; 2014 Jan 01; 111(1):1-3. PubMed ID: 24275206
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  • 19. Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency.
    Schulze A, Hoffmann GF, Bachert P, Kirsch S, Salomons GS, Verhoeven NM, Mayatepek E.
    Neurology; 2006 Aug 22; 67(4):719-21. PubMed ID: 16924036
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  • 20. 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 22; 107(3):433-7. PubMed ID: 23031365
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