These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

141 related articles for article (PubMed ID: 11042421)

  • 1. Adenylosuccinase deficiency: an unusual cause of early-onset epilepsy associated with acquired microcephaly.
    Nassogne M; Henrot B; Aubert G; Bonnier C; Marie S; Saint-Martin C; Van den Berghe G; Sébire G; Vincent M
    Brain Dev; 2000 Sep; 22(6):383-6. PubMed ID: 11042421
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [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
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 46(1):81-91. PubMed ID: 18368630
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Adenylosuccinase deficiency: possibly underdiagnosed encephalopathy with variable clinical features.
    Köhler M; Assmann B; Bräutigam C; Storm W; Marie S; Vincent MF; Van den Berghe G; Simmonds HA; Hoffmann GF
    Eur J Paediatr Neurol; 1999; 3(1):3-6. PubMed ID: 10727185
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Adenylosuccinate lyase deficiency: the first identified polish patient.
    Jurkiewicz E; Mierzewska H; Kuśmierska K
    Brain Dev; 2007 Oct; 29(9):600-2. PubMed ID: 17485188
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis.
    Jaeken J; Wadman SK; Duran M; van Sprang FJ; Beemer FA; Holl RA; Theunissen PM; de Cock P; van den Bergh F; Vincent MF
    Eur J Pediatr; 1988 Nov; 148(2):126-31. PubMed ID: 3234432
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 16(4):343-8. PubMed ID: 21903433
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Inborn errors of the purine nucleotide cycle: adenylosuccinase deficiency.
    Van den Berghe G; Vincent MF; Jaeken J
    J Inherit Metab Dis; 1997 Jun; 20(2):193-202. PubMed ID: 9211192
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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; 43(1):65. PubMed ID: 28768552
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 47(4):314-20. PubMed ID: 20054783
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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; 171(1):131-8. PubMed ID: 21625931
    [TBL] [Abstract][Full Text] [Related]  

  • 12. ADSL Deficiency - The Lesser-Known Metabolic Epilepsy in Infancy.
    Banerjee A; Bhatia V; Didwal G; Singh AK; Saini AG
    Indian J Pediatr; 2021 Mar; 88(3):263-265. PubMed ID: 32681428
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Neurologic aspects of adenylosuccinate lyase deficiency.
    Ciardo F; Salerno C; Curatolo P
    J Child Neurol; 2001 May; 16(5):301-8. PubMed ID: 11392513
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Adenylosuccinate lyase deficiency.
    Jurecka A; Zikanova M; Kmoch S; Tylki-Szymańska A
    J Inherit Metab Dis; 2015 Mar; 38(2):231-42. PubMed ID: 25112391
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 17(1):133-6. PubMed ID: 18830228
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Screening for adenylosuccinate lyase deficiency: clinical, biochemical and molecular findings in four patients.
    Castro M; Pérez-Cerdá C; Merinero B; García MJ; Bernar J; Gil Nagel A; Torres J; Bermúdez M; Garavito P; Marie S; Vincent F; Van den Berghe G; Ugarte M
    Neuropediatrics; 2002 Aug; 33(4):186-9. PubMed ID: 12368987
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Effect of D-ribose on purine synthesis and neurological symptoms in a patient with adenylosuccinase deficiency.
    Salerno C; D'Eufemia P; Finocchiaro R; Celli M; Spalice A; Iannetti P; Crifò C; Giardini O
    Biochim Biophys Acta; 1999 Jan; 1453(1):135-40. PubMed ID: 9989253
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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; 27(5):645-9. PubMed ID: 22140128
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.