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    Results: 10

    1.

    Inborn errors of creatine metabolism and epilepsy.

    Leuzzi V, Mastrangelo M, Battini R, Cioni G.

    Epilepsia. 2013 Feb;54(2):217-27. doi: 10.1111/epi.12020. Epub 2012 Nov 13. Review.

    PMID:
    23157605
    [PubMed - indexed for MEDLINE]
    2.

    Promiscuous activity of arginine:glycine amidinotransferase is responsible for the synthesis of the novel cardiovascular risk factor homoarginine.

    Davids M, Ndika JD, Salomons GS, Blom HJ, Teerlink T.

    FEBS Lett. 2012 Oct 19;586(20):3653-7. doi: 10.1016/j.febslet.2012.08.020. Epub 2012 Aug 29.

    PMID:
    23010440
    [PubMed - indexed for MEDLINE]
    3.

    Creatine metabolism in urea cycle defects.

    Boenzi S, Pastore A, Martinelli D, Goffredo BM, Boiani A, Rizzo C, Dionisi-Vici C.

    J Inherit Metab Dis. 2012 Jul;35(4):647-53. doi: 10.1007/s10545-012-9494-x. Epub 2012 May 30.

    PMID:
    22644604
    [PubMed - indexed for MEDLINE]
    4.

    Developmental progress and creatine restoration upon long-term creatine supplementation of a patient with arginine:glycine amidinotransferase deficiency.

    Ndika JD, Johnston K, Barkovich JA, Wirt MD, O'Neill P, Betsalel OT, Jakobs C, Salomons GS.

    Mol Genet Metab. 2012 May;106(1):48-54. doi: 10.1016/j.ymgme.2012.01.017. Epub 2012 Jan 27.

    PMID:
    22386973
    [PubMed - indexed for MEDLINE]
    5.

    Arginine:glycine amidinotransferase deficiency: a treatable metabolic encephalomyopathy.

    Verma A.

    Neurology. 2010 Jul 13;75(2):186-8. doi: 10.1212/WNL.0b013e3181e7cabd. No abstract available.

    PMID:
    20625172
    [PubMed - indexed for MEDLINE]
    6.

    Creatine and creatine deficiency syndromes: biochemical and clinical aspects.

    Nasrallah F, Feki M, Kaabachi N.

    Pediatr Neurol. 2010 Mar;42(3):163-71. doi: 10.1016/j.pediatrneurol.2009.07.015. Review.

    PMID:
    20159424
    [PubMed - indexed for MEDLINE]
    7.

    Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology.

    Stockler S, Schutz PW, Salomons GS.

    Subcell Biochem. 2007;46:149-66. Review.

    PMID:
    18652076
    [PubMed - indexed for MEDLINE]
    8.

    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
    [PubMed - indexed for MEDLINE]
    9.

    Arginine:glycine amidinotransferase (AGAT) deficiency in a newborn: early treatment can prevent phenotypic expression of the disease.

    Battini R, Alessandrì MG, Leuzzi V, Moro F, Tosetti M, Bianchi MC, Cioni G.

    J Pediatr. 2006 Jun;148(6):828-30.

    PMID:
    16769397
    [PubMed - indexed for MEDLINE]
    10.

    Gas chromatography/mass spectrometry assay for arginine: glycine-amidinotransferase deficiency.

    Alessandrì MG, Celati L, Battini R, Casarano M, Cioni G.

    Anal Biochem. 2005 Aug 15;343(2):356-8. No abstract available.

    PMID:
    15978539
    [PubMed - indexed for MEDLINE]

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