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Showing results for adenylosuccinase deficiency
Search for Adenylsuccinase deficiency instead (2 results)
Adenylosuccinase deficiency.
Van den Berghe G, Jaeken J. Van den Berghe G, et al. Adv Exp Med Biol. 1986;195 Pt A:27-33. doi: 10.1007/978-1-4684-5104-7_4. Adv Exp Med Biol. 1986. PMID: 3014834 No abstract available.
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.
Adenylosuccinase catalyses two reactions in purine metabolism: the conversion of succinylaminoimidazole carboxamide ribotide (SAICAR) into aminoimidazole carboxamide ribotide (AICAR) along the de novo synthesis of purine nucleotides, and the conversion of adenylosuccinate (S-AMP) …
Adenylosuccinase catalyses two reactions in purine metabolism: the conversion of succinylaminoimidazole carboxamide ribotide (SAICAR) into a …
[Adenylosuccinase deficiency].
Fujimori S. Fujimori S. Ryoikibetsu Shokogun Shirizu. 1998;(18 Pt 1):441-3. Ryoikibetsu Shokogun Shirizu. 1998. PMID: 9590095 Review. Japanese. No abstract available.
Adenylosuccinate lyase deficiency.
Jurecka A, Zikanova M, Kmoch S, Tylki-Szymańska A. Jurecka A, et al. J Inherit Metab Dis. 2015 Mar;38(2):231-42. doi: 10.1007/s10545-014-9755-y. Epub 2014 Aug 12. J Inherit Metab Dis. 2015. PMID: 25112391 Free PMC article. Review.
Adenylosuccinate lyase deficiency.
Spiegel EK, Colman RF, Patterson D. Spiegel EK, et al. Mol Genet Metab. 2006 Sep-Oct;89(1-2):19-31. doi: 10.1016/j.ymgme.2006.04.018. Epub 2006 Jul 12. Mol Genet Metab. 2006. PMID: 16839792 Review.
Adenylosuccinate lyase deficiency is a disease of purine metabolism which affects patients both biochemically and behaviorally. ...
Adenylosuccinate lyase deficiency is a disease of purine metabolism which affects patients both biochemically and behav …
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. Jaeken J, et al. Eur J Pediatr. 1988 Nov;148(2):126-31. doi: 10.1007/BF00445919. Eur J Pediatr. 1988. PMID: 3234432
Clinical and biochemical data are presented on eight children with adenylosuccinase deficiency. This newly discovered inborn error of purine metabolism is characterized by an accumulation in body fluids of succinyladenosine (S-Ado) and succinylaminoimidazole carboxa …
Clinical and biochemical data are presented on eight children with adenylosuccinase deficiency. This newly discovered inborn e …
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. Eur J Paediatr Neurol. 1999;3(1):3-6. doi: 10.1053/ejpn.1999.0172. Eur J Paediatr Neurol. 1999. PMID: 10727185
Adenylosuccinase deficiency is an autosomal recessive inherited defect of purine synthesis. ...On mutation analysis this patient is the first to reveal a 39 base pair deletion in the adenylosuccinase gene in contrast to the point mutations detected in previous cases …
Adenylosuccinase deficiency is an autosomal recessive inherited defect of purine synthesis. ...On mutation analysis this patie …
Autism and adenylosuccinase deficiency.
Stathis SL, Cowley DM, Broe D. Stathis SL, et al. J Am Acad Child Adolesc Psychiatry. 2000 Mar;39(3):274-5. doi: 10.1097/00004583-200003000-00007. J Am Acad Child Adolesc Psychiatry. 2000. PMID: 10714045 No abstract available.
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. Sitaram S, et al. Am J Med Genet A. 2023 Jan;191(1):234-237. doi: 10.1002/ajmg.a.62999. Epub 2022 Oct 22. Am J Med Genet A. 2023. PMID: 36271826 Free PMC article.
Adenylosuccinase deficiency is a rare inborn error of metabolism. We present a newborn who died at 52 days of age with clinical features suggestive of severe epileptic encephalopathy and leukodystrophy of unknown cause. ...Adenylosuccinase activity in stored fibrobl …
Adenylosuccinase deficiency is a rare inborn error of metabolism. We present a newborn who died at 52 days of age with clinica …
142 results