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Journal Abstract Search

117 related items for PubMed ID: 9165520

  • 21. Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients.
    Kmoch S, Hartmannová H, Stibůrková B, Krijt J, Zikánová M, Sebesta I.
    Hum Mol Genet; 2000 Jun 12; 9(10):1501-13. PubMed ID: 10888601
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  • 24. Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence.
    Marie S, Cuppens H, Heuterspreute M, Jaspers M, Tola EZ, Gu XX, Legius E, Vincent MF, Jaeken J, Cassiman JJ, Van den Berghe G.
    Hum Mutat; 1999 Jun 12; 13(3):197-202. PubMed ID: 10090474
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  • 26. In vivo proton MR spectroscopy findings specific for adenylosuccinate lyase deficiency.
    Henneke M, Dreha-Kulaczewski S, Brockmann K, van der Graaf M, Willemsen MA, Engelke U, Dechent P, Heerschap A, Helms G, Wevers RA, Gärtner J.
    NMR Biomed; 2010 Jun 12; 23(5):441-5. PubMed ID: 20175147
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  • 28. Screening for adenylosuccinate lyase deficiency using tandem mass spectrometry analysis of succinylpurines in neonatal dried blood spots.
    Zikanova M, Krijt J, Skopova V, Krijt M, Baresova V, Kmoch S.
    Clin Biochem; 2015 Jan 12; 48(1-2):2-7. PubMed ID: 25445730
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  • 30. Myoclonic tremor status as a presenting symptom of adenylosuccinate lyase deficiency.
    Andelman-Gur MM, Saitsu H, Matsumoto N, Spiegel R, Yosovich K, Lev D, Lerman-Sagie T, Blumkin L.
    Eur J Med Genet; 2020 Dec 12; 63(12):104061. PubMed ID: 32890691
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  • 33. Clinical, biochemical, neuropathological and molecular findings of the first Polish case of adenylosuccinase deficiency.
    Mierzewska H, Schmidt-Sidor B, Lewandowska E, Grajkowska W, Kuśmierska K, Jurkiewicz E, Stepień T, Rafałowska J.
    Folia Neuropathol; 2008 Dec 12; 46(1):81-91. PubMed ID: 18368630
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  • 36. ADSL Deficiency - The Lesser-Known Metabolic Epilepsy in Infancy.
    Banerjee A, Bhatia V, Didwal G, Singh AK, Saini AG.
    Indian J Pediatr; 2021 Mar 12; 88(3):263-265. PubMed ID: 32681428
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  • 38. Adenylosuccinate lyase deficiency and disorders of saccharide metabolism; experience with combined screening test.
    Valik D, Jones JD.
    Clin Chim Acta; 1996 May 30; 249(1-2):197-200. PubMed ID: 8737603
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