Chemical Compound Review:
AG-F-57836 (2S)-2-[[9-[(2S,3R,4S,5R)- 3,4-dihydroxy-5...
Synonyms:
KST-1A5849, AC1L4WCL, CTK4I8790, AR-1A3142, AC1Q5T2A, ...
- Preparation of 5-amino-4-imidazole-N-succinocarboxamide ribotide, 5-amino-4-imidazole-N-succinocarboxamide riboside and succinyladenosine, compounds usable in diagnosis and research of adenylosuccinate lyase deficiency. Zikánová, M., Krijt, J., Hartmannová, H., Kmoch, S. J. Inherit. Metab. Dis. (2005)
- First U.S. case of adenylosuccinate lyase deficiency with severe hypotonia. Valik, D., Miner, P.T., Jones, J.D. Pediatric neurology. (1997)
- 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, M.F., Jaeken, J., Van den Berghe, G. J. Inherit. Metab. Dis. (1993)
- An infantile autistic syndrome characterised by the presence of succinylpurines in body fluids. Jaeken, J., Van den Berghe, G. Lancet (1984)
- 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)
- 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, E.Z., Gu, X.X., Legius, E., Vincent, M.F., Jaeken, J., Cassiman, J.J., Van den Berghe, G. Hum. Mutat. (1999)
- Adenylosuccinate lyase deficiency--first British case. Marinaki, A.M., Champion, M., Kurian, M.A., Simmonds, H.A., Marie, S., Vincent, M.F., van den Berghe, G., Duley, J.A., Fairbanks, L.D. Nucleosides Nucleotides Nucleic Acids (2004)