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References

  • 1
    Spiegel EK, Colman RF, Patterson D. Adenylosuccinate lyase deficiency. Mol Genet Metab 2006; 89: 1931.
  • 2
    Jaeken J, Van den Berghe G. An infantile autistic syndrome characterised by the presence of succinylpurines in body fluids. Lancet 1984; 2: 105861.
  • 3
    Fon EA, Demczuk S, Delattre O, Thomas G, Rouleau GA. Mapping of the human adenylosuccinate lyase (ADSL) gene to chromosome 22q13.1–>q13.2. Cytogenet Cell Genet 1993; 64: 2013.
  • 4
    Laikind PK, Seegmiller JE, Gruber HE. Detection of 5′-phosphoribosyl-4-(N-succinylcarboxamide)-5-aminoimidazole in urine by use of the Bratton–Marshall reaction: identification of patients deficient in adenylosuccinate lyase activity. Anal Biochem 1986; 156: 8190.
  • 5
    Simmonds HA, Duley JA, Davies PM. Analysis of purine and pyrimidines in blood, urine and other physiological fluids. In: Hommes F, editor. Techniques in Diagnostic Human Biochemical Genetics: A Laboratory Manual. New York: Wiley-Liss, 1991: 397424.
  • 6
    Hartmann S, Okun JG, Schmidt C, et al. Comprehensive detection of disorders of purine and pyrimidine metabolism by HPLC with electrospray ionization tandem mass spectrometry. Clin Chem 2006; 52: 112737.
  • 7
    Henneke M, Dreha-Kulaczewski S, Brockmann K, et al. In vivo proton MR spectroscopy findings specific for adenylosuccinate lyase deficiency. NMR Biomed 2010; 23: 4415.
  • 8
    Pitt JJ, Eggington M, Kahler SG. Comprehensive screening of urine samples for inborn errors of metabolism by electrospray tandem mass spectrometry. Clin Chem 2002; 48: 197080.
  • 9
    Zikanova M, Krijt J, Hartmannova H, Kmoch S. 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. J Inherit Metab Dis 2005; 28: 4939.
  • 10
    Kmoch S, Hartmannova H, Stiburkova B, Krijt J, Zikanova M, Sebesta I. 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. Hum Mol Genet 2000; 9: 150113.
  • 11
    Marie S, Race V, Nassogne MC, Vincent MF, Van den Berghe G. 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. Am J Hum Genet 2002; 71: 1421.
  • 12
    Race V, Marie S, Vincent MF, Van den Berghe G. Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency. Hum Mol Genet 2000; 9: 215965.
  • 13
    Jurecka A, Tylki-Szymanska A, Zikanova M, Krijt J, Kmoch S. D-Ribose therapy in four Polish patients with adenylosuccinate lyase deficiency: absence of positive effect. J Inherit Metab Dis 2008; 31(Suppl. 2): S32932.
  • 14
    Salerno C, Crifo C, Curatolo P, Ciardo F. Effect of uridine administration to a patient with adenylosuccinate lyase deficiency. Adv Exp Med Biol 2000; 486: 758.
  • 15
    de Brouwer AP, Williams KL, Duley JA, et al. Arts syndrome is caused by loss-of-function mutations in PRPS1. Am J Hum Genet 2007; 81: 50718.
  • 16
    Schuster S, Kenanov D. Adenine and adenosine salvage pathways in erythrocytes and the role of S-adenosylhomocysteine hydrolase. A theoretical study using elementary flux modes. FEBS J 2005; 272: 527890.
  • 17
    Salerno C, Iotti S, Lodi R, Crifo C, Barbiroli B. Failure of muscle energy metabolism in a patient with adenylosuccinate lyase deficiency. An in vivo study by phosphorus NMR spectroscopy. Biochim Biophys Acta 1997; 1360: 2716.
  • 18
    Van den Bergh F, Vincent MF, Jaeken J, Van den Berghe G. Functional studies in fibroblasts of adenylosuccinase-deficient children. J Inherit Metab Dis 1993; 16: 42534.
  • 19
    Glick N. Dramatic reduction in self-injury in Lesch-Nyhan disease following S-adenosylmethionine administration. J Inherit Metab Dis 2006; 29: 687.
  • 20
    Stone TW, Roberts LA, Morris BJ, et al. Succinylpurines induce neuronal damage in the rat brain. Adv Exp Med Biol 1998; 431: 1859.
  • 21
    Duley JA, Christodoulou J, de Brouwer AP. The PRPP synthetase spectrum: what does it demonstrate about nucleotide syndromes? Nucleosides Nucleotides Nucleic Acids 2011; 30: 112939.
  • 22
    Marinaki AM, Champion M, Kurian MA, et al. Adenylosuccinate lyase deficiency – first British case. Nucleosides Nucleotides Nucleic Acids 2004; 23: 12313.
  • 23
    Lundy CT, Jungbluth H, Pohl KR, et al. Adenylosuccinate lyase deficiency in the United Kingdom pediatric population: first three cases. Pediatr Neurol 2010; 43: 3514.