User menu

Accès à distance ? S'identifier sur le proxy UCLouvain

Adenylosuccinase Deficiency - An Inborn Error of Purine Nucleotide Synthesis

Primary tabs

Jaeken, J. Wadman, SK. Duran, M. Vansprang, FJ. Beemer, FA. Vincent, Marie-Françoise [UCL] Van den Berghe, Georges [UCL]
Document type Article de périodique (Journal article) – Article de recherche
Access type Accès restreint
Publication date 1988
Language Anglais
Journal information "European Journal of Pediatrics" - Vol. 148, no. 2, p. 126-131 (1988)
Peer reviewed yes
Publisher Springer Verlag (New York)
issn 0340-6199
e-issn 1432-1076
Publication status Publié
Affiliation UCL - MD/BICL - Département de biochimie et de biologie cellulaire
Links
  1. Adams RD, Lyon G (1982) Neurology of hereditary metabolic diseases of children. McGraw-Hill, New York
  2. American Psychiatric Association (1980) DSM-III: diagnostic and statistical manual of mental disorders, 3rd edn. A.P.A., Washington, DC
  3. Brand LM, Lowenstein JM (1978) Effect of diet on adenylosuccinase activity in various organs of rat and chicken. J Biol Chem 253:6872?6878
  4. Bratton AC, Marshall EK (1939) A new coupling component for sulfanilamide determination. J Biol Chem 128:537?550
  5. Bree PK de, Wadman SK, Duran M, Fabery de Jonge H (1986) Diagnosis of inherited adenylosuccinase deficiciency by thin-layer chromatography of urinary imidazoles and by automated cation exchange column chromatography of purines. Clin Chim Acta 156:279?288
  6. DeMyer W, DeMyer M (1984) Infantile autism. Neurol Clin 2: 139?152
  7. Dorland L, Sprang FJ van, Echteld CJA van, Duran M, Wadman SK, Hollander JA den, Luyten PR (1986) In vivo magnetic resonance spectroscopy and imaging of patients with adenylosuccinase deficiency. Annual Meeting of the SSIEM, abstract book P150. Amersfoort, The Netherlands
  8. Fox IH, Kelley WN (1978) The role of adenosine and 2?-deoxyadenosine in mammalian cells. Annu Rev Biochem 47:655?686
  9. Fredholm BB, Hedqvist P (1980) Modulation of neurotransmission by purine nucleotides and nucleosides. Biochem Pharmacol 29:1635?1643
  10. Jaeken J, Van den Berghe G (1984) An infantile autistic syndrome characterised by the presence of succinylpurines in body fluids. Lancet II:1058?1061
  11. Kaufman JM, Greene ML, Seegmiller JE (1968) Urine uric acid to creatinine ratio ? a screening test for inherited disorders of purine metabolism. J Pediatr 73:583?592
  12. Kelley WN, Wyngaarden JB (1983) Clinical syndromes associated with hypoxanthine-guanine phosphoribosyl transferase deficiency. In: Stanbury JB, Wyngaarden JB, Fredrickson DS, Goldstein JL, Brown MS (eds) The metabolic basis of inherited disease. Mc Graw-Hill, New York, pp 1115?1143
  13. Laikind PK, Seegmiller JE, Gruber HE (1986) 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 156:81?90
  14. Lowenstein JM (1972) Ammonia production in muscle and other tissues: the purine nucleotide cycle. Physiol Rev 52:382?414
  15. Marangos PJ, Boulenger JP (1985) Basic and clinical aspects of adenosinergic neuromodulation. Neurosci Biobehav Rev 9:421?430
  16. Schultz V, Lowenstein JM (1976) Purine nucleotide cycle. Evidence for the occurrence of the cycle in brain. J Biol Chem 251: 485?492
  17. Sidi Y, Mitchell BS (1985) Z-nucleotide accumulation in erythrocytes from Lesch-Nyhan patients. J Clin Invest 76:2416?2419
  18. Van den Berghe G, Jaeken J (1986) Adenylosuccinase deficiency. Adv Exp Med Biol 195A:27?33
  19. Van den Berghe G, Jaeken J (1986) Use of the Bratton-Marshall test for the diagnosis of adenylosuccinase deficiency (in Dutch). Versl Belg Ver Kindergen 18:42?46
  20. Wadman SK, Bree PK de, Duran M, Fabery de Jonge H (1986) Detection of inherited adenylosuccinase deficiency by two dimensional thin layer chromatography of urinary imidazoles. Adv Exp Med Biol 195A:21?25
Bibliographic reference Jaeken, J. ; Wadman, SK. ; Duran, M. ; Vansprang, FJ. ; Beemer, FA. ; et. al. Adenylosuccinase Deficiency - An Inborn Error of Purine Nucleotide Synthesis. In: European Journal of Pediatrics, Vol. 148, no. 2, p. 126-131 (1988)
Permanent URL http://hdl.handle.net/2078.1/52854