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Journal Abstract Search

179 related items for PubMed ID: 33648541

  • 1. Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency.
    Mastrogiorgio G, Macchiaiolo M, Buonuomo PS, Bellacchio E, Bordi M, Vecchio D, Brown KP, Watson NK, Contardi B, Cecconi F, Tartaglia M, Bartuli A.
    Orphanet J Rare Dis; 2021 Mar 01; 16(1):112. PubMed ID: 33648541
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  • 2. A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing.
    Macchiaiolo M, Barresi S, Cecconi F, Zanni G, Niceta M, Bellacchio E, Lazzarino G, Amorini AM, Bertini ES, Rizza S, Contardi B, Tartaglia M, Bartuli A.
    Ital J Pediatr; 2017 Aug 02; 43(1):65. PubMed ID: 28768552
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  • 4. Adenylosuccinate lyase deficiency.
    Jurecka A, Zikanova M, Kmoch S, Tylki-Szymańska A.
    J Inherit Metab Dis; 2015 Mar 02; 38(2):231-42. PubMed ID: 25112391
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  • 8. Electroclinical features and phenotypic differences in adenylosuccinate lyase deficiency: Long-term follow-up of seven patients from four families and appraisal of the literature.
    Cutillo G, Masnada S, Lesca G, Ville D, Accorsi P, Giordano L, Pichiecchio A, Valente M, Borrelli P, Ferraro OE, Veggiotti P.
    Epilepsia Open; 2024 Feb 02; 9(1):106-121. PubMed ID: 37842880
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  • 9. ADSL Deficiency - The Lesser-Known Metabolic Epilepsy in Infancy.
    Banerjee A, Bhatia V, Didwal G, Singh AK, Saini AG.
    Indian J Pediatr; 2021 Mar 02; 88(3):263-265. PubMed ID: 32681428
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  • 10. D-ribose therapy in four Polish patients with adenylosuccinate lyase deficiency: absence of positive effect.
    Jurecka A, Tylki-Szymanska A, Zikanova M, Krijt J, Kmoch S.
    J Inherit Metab Dis; 2008 Dec 02; 31 Suppl 2():S329-32. PubMed ID: 18649008
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  • 11. 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 02; 140(3):107686. PubMed ID: 37607437
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  • 13. Adenylosuccinate lyase deficiency.
    Spiegel EK, Colman RF, Patterson D.
    Mol Genet Metab; 2006 Nov 02; 89(1-2):19-31. PubMed ID: 16839792
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  • 15. Structural and biochemical characterization of human adenylosuccinate lyase (ADSL) and the R303C ADSL deficiency-associated mutation.
    Ray SP, Deaton MK, Capodagli GC, Calkins LA, Sawle L, Ghosh K, Patterson D, Pegan SD.
    Biochemistry; 2012 Aug 21; 51(33):6701-13. PubMed ID: 22812634
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  • 17. Novel features in the evolution of adenylosuccinate lyase deficiency.
    Pérez-Dueñas B, Sempere A, Campistol J, Alonso-Colmenero I, Díez M, González V, Merinero B, Desviat LR, Artuch R.
    Eur J Paediatr Neurol; 2012 Jul 21; 16(4):343-8. PubMed ID: 21903433
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  • 19. Molecular characterization of the AdeI mutant of Chinese hamster ovary cells: a cellular model of adenylosuccinate lyase deficiency.
    Vliet LK, Wilkinson TG, Duval N, Vacano G, Graham C, Zikánová M, Skopova V, Baresova V, Hnízda A, Kmoch S, Patterson D.
    Mol Genet Metab; 2011 Jan 21; 102(1):61-8. PubMed ID: 20884265
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