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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

117 related items for PubMed ID: 9165520

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  • 5. Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency.
    Race V, Marie S, Vincent MF, Van den Berghe G.
    Hum Mol Genet; 2000 Sep 01; 9(14):2159-65. PubMed ID: 10958654
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  • 8. Adenylosuccinate lyase deficiency in a Malaysian patient, with novel adenylosuccinate lyase gene mutations.
    Chen BC, McGown IN, Thong MK, Pitt J, Yunus ZM, Khoo TB, Ngu LH, Duley JA.
    J Inherit Metab Dis; 2010 Dec 01; 33 Suppl 3():S159-62. PubMed ID: 20177786
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  • 10. Misleading behavioural phenotype with adenylosuccinate lyase deficiency.
    Gitiaux C, Ceballos-Picot I, Marie S, Valayannopoulos V, Rio M, Verrieres S, Benoist JF, Vincent MF, Desguerre I, Bahi-Buisson N.
    Eur J Hum Genet; 2009 Jan 01; 17(1):133-6. PubMed ID: 18830228
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  • 15. Preparation of 5-amino-4-imidazole-N-succinocarboxamide ribotide, 5-amino-4-imidazole-N-succinocarboxamide riboside and succinyladenosine, compounds usable in diagnosis and research of adenylosuccinate lyase deficiency.
    Zikánová M, Krijt J, Hartmannová H, Kmoch S.
    J Inherit Metab Dis; 2005 Jan 01; 28(4):493-9. PubMed ID: 15902552
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  • 16. Early diagnosis of adenylosuccinate lyase deficiency using a high-throughput screening method and a trial of oral S-adenosyl-l-methionine as a treatment method.
    van Werkhoven MA, Duley JA, McGown I, Munce T, Freeman JL, Pitt JJ.
    Dev Med Child Neurol; 2013 Nov 01; 55(11):1060-4. PubMed ID: 23937257
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  • 19. Adenylosuccinase deficiency: possibly underdiagnosed encephalopathy with variable clinical features.
    Köhler M, Assmann B, Bräutigam C, Storm W, Marie S, Vincent MF, Van den Berghe G, Simmonds HA, Hoffmann GF.
    Eur J Paediatr Neurol; 1999 Nov 01; 3(1):3-6. PubMed ID: 10727185
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