Van den Berghe G - Search Results

1

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. Köhler M, et al. Among authors: van den berghe g. Eur J Paediatr Neurol. 1999;3(1):3-6. doi: 10.1053/ejpn.1999.0172. Eur J Paediatr Neurol. 1999. PMID: 10727185

2

Inborn errors of the purine nucleotide cycle: adenylosuccinase deficiency.

Van den Berghe G, Vincent MF, Jaeken J. Van den Berghe G, et al. J Inherit Metab Dis. 1997 Jun;20(2):193-202. doi: 10.1023/a:1005304722259. J Inherit Metab Dis. 1997. PMID: 9211192 Review.

3

Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency.

Race V, Marie S, Vincent MF, Van den Berghe G. Race V, et al. Among authors: van den berghe g. Hum Mol Genet. 2000 Sep 1;9(14):2159-65. doi: 10.1093/hmg/9.14.2159. Hum Mol Genet. 2000. PMID: 10958654

4

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. Nassogne M, et al. Among authors: van den berghe g. Brain Dev. 2000 Sep;22(6):383-6. doi: 10.1016/s0387-7604(00)00154-6. Brain Dev. 2000. PMID: 11042421

5

Residual adenylosuccinase activities in fibroblasts of adenylosuccinase-deficient children: parallel deficiency with adenylosuccinate and succinyl-AICAR in profoundly retarded patients and non-parallel deficiency in a mildly retarded girl.

Van den Bergh F, Vincent MF, Jaeken J, Van den Berghe G. Van den Bergh F, et al. Among authors: van den berghe g. J Inherit Metab Dis. 1993;16(2):415-24. doi: 10.1007/BF00710291. J Inherit Metab Dis. 1993. PMID: 8412002

6

Functional studies in fibroblasts of adenylosuccinase-deficient children.

Van den Bergh F, Vincent MF, Jaeken J, Van den Berghe G. Van den Bergh F, et al. Among authors: van den berghe g. J Inherit Metab Dis. 1993;16(2):425-34. doi: 10.1007/BF00710293. J Inherit Metab Dis. 1993. PMID: 8412003

7

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. Marie S, et al. Among authors: van den berghe g. Hum Mutat. 1999;13(3):197-202. doi: 10.1002/(SICI)1098-1004(1999)13:3<197::AID-HUMU3>3.0.CO;2-D. Hum Mutat. 1999. PMID: 10090474

8

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. Marie S, et al. Among authors: van den berghe g. Prenat Diagn. 2000 Jan;20(1):33-6. doi: 10.1002/(sici)1097-0223(200001)20:1<33::aid-pd751>3.0.co;2-3. Prenat Diagn. 2000. PMID: 10701848

9

Mutation of a nuclear respiratory factor 2 binding site in the 5' untranslated region of the ADSL gene in three patients with adenylosuccinate lyase deficiency.

Marie S, Race V, Nassogne MC, Vincent MF, Van den Berghe G. Marie S, et al. Among authors: van den berghe g. Am J Hum Genet. 2002 Jul;71(1):14-21. doi: 10.1086/341036. Epub 2002 May 9. Am J Hum Genet. 2002. PMID: 12016589 Free PMC article.

10

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. Marinaki AM, et al. Among authors: van den berghe g. Nucleosides Nucleotides Nucleic Acids. 2004 Oct;23(8-9):1231-3. doi: 10.1081/NCN-200027494. Nucleosides Nucleotides Nucleic Acids. 2004. PMID: 15571235

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