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Journal Abstract Search

128 related items for PubMed ID: 15108290

  • 1. Characterization of seven novel mutations in seven patients with GAMT deficiency.
    Item CB, Mercimek-Mahmutoglu S, Battini R, Edlinger-Horvat C, Stromberger C, Bodamer O, Mühl A, Vilaseca MA, Korall H, Stöckler-Ipsiroglu S.
    Hum Mutat; 2004 May; 23(5):524. PubMed ID: 15108290
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  • 2. 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. PubMed ID: 17336114
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  • 3. Use of denaturing HPLC to provide efficient detection of mutations causing guanidinoacetate methyltransferase deficiency.
    Item CB, Stöckler-Ipsiroglu S, Willheim C, Mühl A, Bodamer OA.
    Mol Genet Metab; 2005 May; 86(1-2):328-34. PubMed ID: 16054853
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  • 4. Two new severe mutations causing guanidinoacetate methyltransferase deficiency.
    Carducci C, Leuzzi V, Carducci C, Prudente S, Mercuri L, Antonozzi I.
    Mol Genet Metab; 2000 Dec; 71(4):633-8. PubMed ID: 11136556
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  • 5. 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
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  • 6. GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis.
    Mercimek-Mahmutoglu S, Stoeckler-Ipsiroglu S, Adami A, Appleton R, Araújo HC, Duran M, Ensenauer R, Fernandez-Alvarez E, Garcia P, Grolik C, Item CB, Leuzzi V, Marquardt I, Mühl A, Saelke-Kellermann RA, Salomons GS, Schulze A, Surtees R, van der Knaap MS, Vasconcelos R, Verhoeven NM, Vilarinho L, Wilichowski E, Jakobs C.
    Neurology; 2006 Aug 08; 67(3):480-4. PubMed ID: 16855203
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  • 7. 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 08; 89(4):392-4. PubMed ID: 16899382
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  • 11. 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 08; 96(1):38-43. PubMed ID: 19027335
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  • 15. Wolfram syndrome in French population: characterization of novel mutations and polymorphisms in the WFS1 gene.
    Giuliano F, Bannwarth S, Monnot S, Cano A, Chabrol B, Vialettes B, Delobel B, Paquis-Flucklinger V, French Group of WS.
    Hum Mutat; 2005 Jan 08; 25(1):99-100. PubMed ID: 15605410
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  • 17. The human guanidinoacetate methyltransferase (GAMT) gene maps to a syntenic region on 19p13.3, homologous to band C of mouse chromosome 10, but GAMT is not mutated in jittery mice.
    Jenne DE, Olsen AS, Zimmer M.
    Biochem Biophys Res Commun; 1997 Sep 29; 238(3):723-7. PubMed ID: 9325156
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  • 18. Molecular characterization of two novel mutations causing factor XI deficiency: A splicing defect and a missense mutation responsible for a CRM+ defect.
    Guella I, Soldà G, Spena S, Asselta R, Ghiotto R, Tenchini ML, Castaman G, Duga S.
    Thromb Haemost; 2008 Mar 29; 99(3):523-30. PubMed ID: 18327400
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  • 20. Use of the denaturing gradient gel electrophoresis (DGGE) method for mutational screening of patients with familial hypercholesterolaemia (FH) and Familial defective apolipoprotein B100 (FDB).
    Azian M, Hapizah MN, Khalid BA, Khalid Y, Rosli A, Jamal R.
    Malays J Pathol; 2006 Jun 29; 28(1):7-15. PubMed ID: 17694954
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