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Items: 1 to 20 of 144

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.

PMID:
11042421
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. doi: 10.1016/j.arcped.2007.08.028. Epub 2008 Jan 16. French.

PMID:
18201882
3.

Adenylosuccinate lyase deficiency: the first identified polish patient.

Jurkiewicz E, Mierzewska H, Kuśmierska K.

Brain Dev. 2007 Oct;29(9):600-2. Epub 2007 May 7.

PMID:
17485188
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.

PMID:
10727185
5.

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. doi: 10.1016/j.ejpn.2011.08.008. Epub 2011 Sep 7.

PMID:
21903433
6.

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.

7.

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.

PMID:
9553952
8.

Inborn errors of creatine metabolism and epilepsy.

Leuzzi V, Mastrangelo M, Battini R, Cioni G.

Epilepsia. 2013 Feb;54(2):217-27. doi: 10.1111/epi.12020. Epub 2012 Nov 13. Review.

9.

Early-onset cobalamin C/D deficiency: epilepsy and electroencephalographic features.

Biancheri R, Cerone R, Rossi A, Schiaffino MC, Caruso U, Minniti G, Perrone MV, Tortori-Donati P, Veneselli E.

Epilepsia. 2002 Jun;43(6):616-22.

10.

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, et al.

Eur J Pediatr. 1988 Nov;148(2):126-31.

PMID:
3234432
11.

Magnetic resonance imaging and magnetic resonance spectroscopy in isolated sulfite oxidase deficiency.

Hoffmann C, Ben-Zeev B, Anikster Y, Nissenkorn A, Brand N, Kuint J, Kushnir T.

J Child Neurol. 2007 Oct;22(10):1214-21.

PMID:
17940249
12.

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.

PMID:
12368987
13.

[Congenital errors of metabolism with epileptic seizures during the first years of life].

Campistol J.

Rev Neurol. 2002 Sep;35 Suppl 1:S3-S20. Review. Spanish.

14.

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. doi: 10.1007/s00431-011-1503-9. Epub 2011 May 31. Review.

PMID:
21625931
15.
16.

Adenylosuccinate lyase deficiency.

Spiegel EK, Colman RF, Patterson D.

Mol Genet Metab. 2006 Sep-Oct;89(1-2):19-31. Epub 2006 Jul 12. Review.

PMID:
16839792
17.

Prenatal diagnosis in adenylosuccinate lyase deficiency.

Marie S, Flipsen JW, Duran M, Poll-The BT, Beemer FA, Bosschaart AN, Vincent MF, Van den Berghe G.

Prenat Diagn. 2000 Jan;20(1):33-6.

PMID:
10701848
18.

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. Review.

PMID:
9211192
19.

Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence.

Marie S, Cuppens H, Heuterspreute M, Jaspers M, Tola EZ, Gu XX, Legius E, Vincent MF, Jaeken J, Cassiman JJ, Van den Berghe G.

Hum Mutat. 1999;13(3):197-202.

PMID:
10090474
20.

L-2-hydroxyglutaric aciduria: clinical, neuroimaging, and neuropathological findings.

Seijo-Martínez M, Navarro C, Castro del Río M, Vila O, Puig M, Ribes A, Butron M.

Arch Neurol. 2005 Apr;62(4):666-70.

PMID:
15824270

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