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Journal Abstract Search

270 related items for PubMed ID: 18201882

  • 1. [Adenylosuccinate lyase deficiency: an unusual cause of neonatal seizure].
    Clamadieu C, Cottin X, Rousselle C, Claris O.
    Arch Pediatr; 2008 Feb; 15(2):135-8. PubMed ID: 18201882
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  • 3. Adenylosuccinase deficiency with neonatal onset severe epileptic seizures and sudden death.
    van den Bergh FA, Bosschaart AN, Hageman G, Duran M, Tien Poll-The B.
    Neuropediatrics; 1998 Feb; 29(1):51-3. PubMed ID: 9553952
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  • 6. Adenylosuccinate lyase deficiency.
    Spiegel EK, Colman RF, Patterson D.
    Mol Genet Metab; 2006 Feb; 89(1-2):19-31. PubMed ID: 16839792
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  • 10. Neurologic aspects of adenylosuccinate lyase deficiency.
    Ciardo F, Salerno C, Curatolo P.
    J Child Neurol; 2001 May; 16(5):301-8. PubMed ID: 11392513
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  • 11. 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; 150(1):57-61.e2. PubMed ID: 17188615
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  • 14. Adenylosuccinate lyase deficiency in the United Kingdom pediatric population: first three cases.
    Lundy CT, Jungbluth H, Pohl KR, Siddiqui A, Marinaki AM, Mundy H, Champion MP.
    Pediatr Neurol; 2010 Nov; 43(5):351-4. PubMed ID: 20933180
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  • 15. 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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  • 17. 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
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  • 19. Severe encephalopathy with brain atrophy and hypomyelination due to adenylosuccinate lyase deficiency--MRI, clinical, biochemical and neuropathological findings of Polish patients.
    Mierzewska H, Schmidt-Sidor B, Jurkiewicz E, Bogdańska A, Kuśmierska K, Stepień T.
    Folia Neuropathol; 2009 Jan 02; 47(4):314-20. PubMed ID: 20054783
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