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Journal Abstract Search

167 related items for PubMed ID: 28768552

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. 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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  • 4. Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency.
    Zulfiqar M, Lin DD, Van der Graaf M, Barker PB, Fahrner JA, Marie S, Morava E, De Boer L, Willemsen MA, Vining E, Horská A, Engelke U, Wevers RA, Maegawa GH.
    J Magn Reson Imaging; 2013 Apr 02; 37(4):974-80. PubMed ID: 23055421
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  • 5. Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency.
    Jurecka A, Zikanova M, Tylki-Szymanska A, Krijt J, Bogdanska A, Gradowska W, Mullerova K, Sykut-Cegielska J, Kmoch S, Pronicka E.
    Mol Genet Metab; 2008 Aug 02; 94(4):435-442. PubMed ID: 18524658
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  • 6. A newborn case of adenylosuccinate lyase deficiency with a novel heterozygous mutation diagnosed by whole exome sequencing.
    Cakmak Celik F, Ozlu MM, Ceylaner S.
    Clin Neurol Neurosurg; 2021 Mar 02; 202():106506. PubMed ID: 33497949
    [No Abstract] [Full Text] [Related]

  • 7. 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 02; 63(12):104061. PubMed ID: 32890691
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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 02; 33 Suppl 3():S159-62. PubMed ID: 20177786
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  • 9. 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 02; 17(1):133-6. PubMed ID: 18830228
    [Abstract] [Full Text] [Related]

  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11. 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 02; 16(4):343-8. PubMed ID: 21903433
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  • 12. 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
    [Abstract] [Full Text] [Related]

  • 13. 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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  • 15. The need for vigilance: false-negative screening for adenylosuccinate lyase deficiency caused by deribosylation of urinary biomarkers.
    Krijt J, Skopova V, Adamkova V, Cermakova R, Jurecka A, Kmoch S, Zikanova M.
    Clin Biochem; 2013 Dec 01; 46(18):1899-901. PubMed ID: 24183879
    [Abstract] [Full Text] [Related]

  • 16. Inborn errors of the purine nucleotide cycle: adenylosuccinase deficiency.
    Van den Berghe G, Vincent MF, Jaeken J.
    J Inherit Metab Dis; 1997 Jun 01; 20(2):193-202. PubMed ID: 9211192
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  • 17. Adenylosuccinate lyase deficiency--first British case.
    Marinaki AM, Champion M, Kurian MA, Simmonds HA, Marie S, Vincent MF, van den Berghe G, Duley JA, Fairbanks LD.
    Nucleosides Nucleotides Nucleic Acids; 2004 Oct 01; 23(8-9):1231-3. PubMed ID: 15571235
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  • 19. 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 01; 31 Suppl 2():S329-32. PubMed ID: 18649008
    [Abstract] [Full Text] [Related]

  • 20. 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 01; 102(1):61-8. PubMed ID: 20884265
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