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    Results: 13

    1.

    Methionine adenosyltransferase I/III deficiency: neurological manifestations and relevance of S-adenosylmethionine.

    Furujo M, Kinoshita M, Nagao M, Kubo T.

    Mol Genet Metab. 2012 Nov;107(3):253-6. doi: 10.1016/j.ymgme.2012.08.002. Epub 2012 Aug 11. Review.

    PMID:
    22951388
    [PubMed - indexed for MEDLINE]
    2.

    S-adenosylmethionine treatment in methionine adenosyltransferase deficiency, a case report.

    Furujo M, Kinoshita M, Nagao M, Kubo T.

    Mol Genet Metab. 2012 Mar;105(3):516-8. doi: 10.1016/j.ymgme.2011.11.192. Epub 2011 Dec 2.

    PMID:
    22178350
    [PubMed - indexed for MEDLINE]
    3.

    Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function.

    Bjursell MK, Blom HJ, Cayuela JA, Engvall ML, Lesko N, Balasubramaniam S, Brandberg G, Halldin M, Falkenberg M, Jakobs C, Smith D, Struys E, von Döbeln U, Gustafsson CM, Lundeberg J, Wedell A.

    Am J Hum Genet. 2011 Oct 7;89(4):507-15. doi: 10.1016/j.ajhg.2011.09.004. Epub 2011 Sep 28.

    PMID:
    21963049
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    4.

    Acute and chronic hypermethioninemia alter Na+,K(+)-ATPase activity in rat hippocampus: prevention by antioxidants.

    Stefanello FM, Ferreira AG, Pereira TC, da Cunha MJ, Bonan CD, Bogo MR, Wyse AT.

    Int J Dev Neurosci. 2011 Jun;29(4):483-8. doi: 10.1016/j.ijdevneu.2011.02.001. Epub 2011 Feb 24.

    PMID:
    21354298
    [PubMed - indexed for MEDLINE]
    5.

    Hypermethioninemias of genetic and non-genetic origin: A review.

    Mudd SH.

    Am J Med Genet C Semin Med Genet. 2011 Feb 15;157(1):3-32. doi: 10.1002/ajmg.c.30293. Epub 2011 Feb 9. Review.

    PMID:
    21308989
    [PubMed - indexed for MEDLINE]
    6.

    Enzymatic activity of methionine adenosyltransferase variants identified in patients with persistent hypermethioninemia.

    Fernández-Irigoyen J, Santamaría E, Chien YH, Hwu WL, Korman SH, Faghfoury H, Schulze A, Hoganson GE, Stabler SP, Allen RH, Wagner C, Mudd SH, Corrales FJ.

    Mol Genet Metab. 2010 Oct-Nov;101(2-3):172-7. doi: 10.1016/j.ymgme.2010.07.009. Epub 2010 Jul 15.

    PMID:
    20675163
    [PubMed - indexed for MEDLINE]
    7.

    Hypermethioninemia provokes oxidative damage and histological changes in liver of rats.

    Stefanello FM, Matté C, Pederzolli CD, Kolling J, Mescka CP, Lamers ML, de Assis AM, Perry ML, dos Santos MF, Dutra-Filho CS, Wyse AT.

    Biochimie. 2009 Aug;91(8):961-8. doi: 10.1016/j.biochi.2009.04.018. Epub 2009 May 7.

    PMID:
    19426780
    [PubMed - indexed for MEDLINE]
    8.

    Determination of branched chain amino acids, methionine, phenylalanine, tyrosine and alpha-keto acids in plasma and dried blood samples using HPLC with fluorescence detection.

    Kand'ár R, Záková P, Jirosová J, Sladká M.

    Clin Chem Lab Med. 2009;47(5):565-72. doi: 10.1515/CCLM.2009.123.

    PMID:
    19290779
    [PubMed - indexed for MEDLINE]
    9.

    Streptococcal pyrogenic exotoxin B cleaves human S-adenosylhomocysteine hydrolase and induces hypermethioninemia.

    Hsu JF, Chuang WJ, Shiesh SC, Lin YS, Liu CC, Wang CC, Fu TF, Tsai JH, Tsai WL, Huang YJ, Hsieh YH, Wu JJ, Lin MT, Huang W.

    J Infect Dis. 2008 Aug 1;198(3):367-74. doi: 10.1086/589719.

    PMID:
    18522500
    [PubMed - indexed for MEDLINE]
    Free Article
    10.

    Genetic background conversion ameliorates semi-lethality and permits behavioral analyses in cystathionine beta-synthase-deficient mice, an animal model for hyperhomocysteinemia.

    Akahoshi N, Kobayashi C, Ishizaki Y, Izumi T, Himi T, Suematsu M, Ishii I.

    Hum Mol Genet. 2008 Jul 1;17(13):1994-2005. doi: 10.1093/hmg/ddn097. Epub 2008 Mar 25.

    PMID:
    18364386
    [PubMed - indexed for MEDLINE]
    Free Article
    11.

    Spectrum of hypermethioninemia in neonatal screening.

    Chien YH, Chiang SC, Huang A, Hwu WL.

    Early Hum Dev. 2005 Jun;81(6):529-33. Epub 2004 Dec 19.

    PMID:
    15935930
    [PubMed - indexed for MEDLINE]
    12.

    S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism.

    Baric I, Fumic K, Glenn B, Cuk M, Schulze A, Finkelstein JD, James SJ, Mejaski-Bosnjak V, Pazanin L, Pogribny IP, Rados M, Sarnavka V, Scukanec-Spoljar M, Allen RH, Stabler S, Uzelac L, Vugrek O, Wagner C, Zeisel S, Mudd SH.

    Proc Natl Acad Sci U S A. 2004 Mar 23;101(12):4234-9. Epub 2004 Mar 15.

    PMID:
    15024124
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    13.

    Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype.

    Kruger WD, Wang L, Jhee KH, Singh RH, Elsas LJ 2nd.

    Hum Mutat. 2003 Dec;22(6):434-41.

    PMID:
    14635102
    [PubMed - indexed for MEDLINE]

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