Vincent MF - 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: vincent mf. Eur J Paediatr Neurol. 1999;3(1):3-6. doi: 10.1053/ejpn.1999.0172. Eur J Paediatr Neurol. 1999. PMID: 10727185

2

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. Brain Dev. 2000 Sep;22(6):383-6. doi: 10.1016/s0387-7604(00)00154-6. Brain Dev. 2000. PMID: 11042421

3

Inborn errors of the purine nucleotide cycle: adenylosuccinase deficiency.

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

4

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: vincent mf. Hum Mol Genet. 2000 Sep 1;9(14):2159-65. doi: 10.1093/hmg/9.14.2159. Hum Mol Genet. 2000. PMID: 10958654

5

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: vincent mf. 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

6

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: vincent mf. Nucleosides Nucleotides Nucleic Acids. 2004 Oct;23(8-9):1231-3. doi: 10.1081/NCN-200027494. Nucleosides Nucleotides Nucleic Acids. 2004. PMID: 15571235

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: vincent mf. 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

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: vincent mf. J Inherit Metab Dis. 1993;16(2):415-24. doi: 10.1007/BF00710291. J Inherit Metab Dis. 1993. PMID: 8412002

9

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: vincent mf. J Inherit Metab Dis. 1993;16(2):425-34. doi: 10.1007/BF00710293. J Inherit Metab Dis. 1993. PMID: 8412003

10

Adenylosuccinase activity and succinylpurine production 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: vincent mf. Adv Exp Med Biol. 1991;309B:277-80. doi: 10.1007/978-1-4615-7703-4_62. Adv Exp Med Biol. 1991. PMID: 1781383 No abstract available.

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