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167 related items for PubMed ID: 28768552

  • 21. 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; 28(4):493-9. PubMed ID: 15902552
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  • 23. 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. Neurologic presentation, diagnostics, and therapeutic insights in a severe case of adenylosuccinate lyase deficiency.
    Jurecka A, Opoka-Winiarska V, Rokicki D, Tylki-Szymańska A.
    J Child Neurol; 2012 May 12; 27(5):645-9. PubMed ID: 22140128
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  • 28. A Caenorhabditis elegans model of adenylosuccinate lyase deficiency reveals neuromuscular and reproductive phenotypes of distinct etiology.
    Fenton AR, Janowitz HN, Franklin LP, Young RG, Moro CA, DeGennaro MV, McReynolds MR, Wang W, Hanna-Rose W.
    Mol Genet Metab; 2023 Nov 12; 140(3):107686. PubMed ID: 37607437
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  • 29. Pathway-specific effects of ADSL deficiency on neurodevelopment.
    Dutto I, Gerhards J, Herrera A, Souckova O, Škopová V, Smak JA, Junza A, Yanes O, Boeckx C, Burkhalter MD, Zikánová M, Pons S, Philipp M, Lüders J, Stracker TH.
    Elife; 2022 Feb 08; 11():. PubMed ID: 35133277
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  • 30. Lethal fetal and early neonatal presentation of adenylosuccinate lyase deficiency: observation of 6 patients in 4 families.
    Mouchegh K, Zikánová M, Hoffmann GF, Kretzschmar B, Kühn T, Mildenberger E, Stoltenburg-Didinger G, Krijt J, Dvoráková L, Honzík T, Zeman J, Kmoch S, Rossi R.
    J Pediatr; 2007 Jan 08; 150(1):57-61.e2. PubMed ID: 17188615
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  • 31. 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 08; 55(11):1060-4. PubMed ID: 23937257
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  • 32. [Adenylosuccinate lyase deficiency: an unusual cause of neonatal seizure].
    Clamadieu C, Cottin X, Rousselle C, Claris O.
    Arch Pediatr; 2008 Feb 08; 15(2):135-8. PubMed ID: 18201882
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  • 33. Magnetic resonance imaging of the brain in adenylosuccinate lyase deficiency: a report of seven cases and a review of the literature.
    Jurecka A, Jurkiewicz E, Tylki-Szymanska A.
    Eur J Pediatr; 2012 Jan 08; 171(1):131-8. PubMed ID: 21625931
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  • 34. Neurologic aspects of adenylosuccinate lyase deficiency.
    Ciardo F, Salerno C, Curatolo P.
    J Child Neurol; 2001 May 08; 16(5):301-8. PubMed ID: 11392513
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  • 35. 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 May 08; 46(1):81-91. PubMed ID: 18368630
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  • 36. Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency.
    Baresova V, Skopova V, Sikora J, Patterson D, Sovova J, Zikanova M, Kmoch S.
    Hum Mol Genet; 2012 Apr 01; 21(7):1534-43. PubMed ID: 22180458
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