179 related articles for article (PubMed ID: 3234432)
1. 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]
2. 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]
3. Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency.
Race V; Marie S; Vincent MF; Van den Berghe G
Hum Mol Genet; 2000 Sep; 9(14):2159-65. PubMed ID: 10958654
[TBL] [Abstract][Full Text] [Related]
4. The need for vigilance: false-negative screening for adenylosuccinate lyase deficiency caused by deribosylation of urinary biomarkers.
Krijt J; Skopova V; Adamkova V; Cermakova R; Jurecka A; Kmoch S; Zikanova M
Clin Biochem; 2013 Dec; 46(18):1899-901. PubMed ID: 24183879
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
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
Hum Mutat; 1999; 13(3):197-202. PubMed ID: 10090474
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. First U.S. case of adenylosuccinate lyase deficiency with severe hypotonia.
Valik D; Miner PT; Jones JD
Pediatr Neurol; 1997 Apr; 16(3):252-5. PubMed ID: 9165520
[TBL] [Abstract][Full Text] [Related]
11. Radiochemical assay of adenylosuccinase: demonstration of parallel loss of activity toward both adenylosuccinate and succinylaminoimidazole carboxamide ribotide in liver of patients with the enzyme defect.
Van den Bergh F; Vincent MF; Jaeken J; Van den Berghe G
Anal Biochem; 1991 Mar; 193(2):287-91. PubMed ID: 1872474
[TBL] [Abstract][Full Text] [Related]
12. 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
J Inherit Metab Dis; 1993; 16(2):415-24. PubMed ID: 8412002
[TBL] [Abstract][Full Text] [Related]
13. Anticipatory banking of samples enables diagnosis of adenylosuccinase deficiency following molecular autopsy in an infant with vacuolating leukoencephalopathy.
Sitaram S; Banka HC; Vassallo G; Pavaine J; Fairclough A; Wright R; Fairbanks L; Bierau J; Bowden L; Schwahn B; Horman A; Banka S
Am J Med Genet A; 2023 Jan; 191(1):234-237. PubMed ID: 36271826
[TBL] [Abstract][Full Text] [Related]
14. An infantile autistic syndrome characterised by the presence of succinylpurines in body fluids.
Jaeken J; Van den Berghe G
Lancet; 1984 Nov; 2(8411):1058-61. PubMed ID: 6150139
[TBL] [Abstract][Full Text] [Related]
15. Detection of inherited adenylosuccinase deficiency by two dimensional thin layer chromatography of urinary imidazoles.
Wadman SK; de Bree PK; Duran M; de Jonge HF
Adv Exp Med Biol; 1986; 195 Pt A():21-5. PubMed ID: 3728154
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Adenylosuccinase deficiency.
Van den Berghe G; Jaeken J
Adv Exp Med Biol; 1986; 195 Pt A():27-33. PubMed ID: 3014834
[No Abstract] [Full Text] [Related]
18. 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]
19. Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients.
Kmoch S; Hartmannová H; Stibůrková B; Krijt J; Zikánová M; Sebesta I
Hum Mol Genet; 2000 Jun; 9(10):1501-13. PubMed ID: 10888601
[TBL] [Abstract][Full Text] [Related]
20. Adenylosuccinate lyase deficiency in a Malaysian patient, with novel adenylosuccinate lyase gene mutations.
Chen BC; McGown IN; Thong MK; Pitt J; Yunus ZM; Khoo TB; Ngu LH; Duley JA
J Inherit Metab Dis; 2010 Dec; 33 Suppl 3():S159-62. PubMed ID: 20177786
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
