Accès gratuit
Med Sci (Paris)
Volume 20, Numéro 10, Octobre 2004
Page(s) 929 - 932
Section Forum
Publié en ligne 15 octobre 2004
  1. Scriver CR, Kaufman S. Hyperphenlylalaninemia : phenylalanine hydroxylase deficiency. In : Scriver CR, Baudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease, chapter 77. New York : McGraw Hill, 2001 : 1671.
  2. Abadie V, Rey F, Plainguet F, Rey J. Évolution intellectuelle après relâchement du régime à l’âge de 5 ans dans la phénylcétonurie typique. Arch Fr Pediatr 1992; 49 : 773–8.
  3. Burgard P, Schmidt E, Rupp A, et al. Intellectual development of the patients of the German collaborative study of children treated for phenylketonuria. Eur J Pediatr 1996; 155 (suppl 1) : S33–8.
  4. Hommes FA. Loss of neurotransmitter receptors by hyperphenylalaninemia in the HPH-5 mouse brain. Acta Paediatr 1992; 907 (suppl) : 120–1.
  5. Meli C, Garozzo R, Mollica F, et al. Different clinical manifestations in siblings with identical phenylalanine hydroxylase genes mutations. J Inher Metab Dis 1998; 21 (suppl 2) : 10.
  6. Gizewska M, Zekanowski C, Cyriowski L, et al. Different presentation of late-detected PKU in two brothers with the same R408W/R111X mutations in PAH gene. J Inher Metab Dis 2001; 24 (suppl 1) : 22.
  7. Jepson JB, Lovenberg W, Zaltzman P, et al. Conversion of phenylalanine to phenylethylamine in patients with phenylketonuria. Biochem J 1960; 74 : 5.
  8. Oates JA, Nirenberg PZ, Jepson JB, et al. Amine metabolism, studied in normal and phenylketonuric humans by monoamine oxydase inhibition. Proc Soc Exp Biol Med 1963; 112 : 1078–81.
  9. Michals K, Matalon R. Phenylalanine metabolites, attention span and hyperactivity. Am J Clin Nutr 1985; 42 : 361–5.
  10. Paterson IA, Juorio AV, Boulton AA. 2-Phenylethylamine : a modulator of catecholamine transmission in the mammalian central nervous system ? J Neurochem 1990; 55 : 1827–37.
  11. Blau K. The significance of phenylethylamine in phenylketonuria and related disorders. In : Mosnaïm AD, Wolf ME, eds. Noncatecholic phenylethylamines. Part I. Phenylethylamine : biological mechanisms and clinical aspects. New York : Marcel Dekker, 1978 : 385–96.
  12. Loo YH, Jervis GA, Horning MG. Possible role of 2-phenylethylamine in the pathology of the central nervous system. In : Mosnaïm AD, Wolf ME, eds. Noncatecholic phenylethylamines. Part I. Phenylethylamine : biological mechanisms and clinical aspects. New York : Marcel Dekker, 1978 : 419–45.
  13. Denno KM, Sadler TW. Phenylalanine and its metabolites induce embryopathies in mouse embryos in cultures. Teratology1990; 42 : 565–70.
  14. Johnston JP. Some observations upon a new inhibitor of monoamine oxydase in brain tissues. Biochem Pharmacol1968; 17 : 1285–97.
  15. Lewinsohn R, Glover V, Sandler M. Development of benzylamine oxidase and monoamine oxydase A and B in man. Biochem Pharmacol 1980; 29 : 1221–30.
  16. Cases O, Vitalis T, Seif I, et al. Lack of barrels in the somatosensory cortex of monoamine oxydase A-deficient mice : role of serotonin excess during the critical period. Neuron 1996; 16 : 297–307.
  17. Donnelly E, Murphy DL, Waldman IN, et al. Psychological characteristics corresponding to low versus high platelet monamine oxydase activity. Biol Psychiatr 1979; 14 : 375–83.
  18. Mellick GD, Buchanan DD, Mc Cann SJ, et al. Variations in the monoamine oxydase B (MAOB) gene are associated with Parkinson’s disease. Mov Disord 1999; 14 : 219–24.
  19. Carrasco JL, Diaz-Marsa M, Hollander E, et al. Decreased platelet monoamine oxydase activity in female bulimia nervosa. Eur Neuropsychopharmacol 2000; 10 : 113–7.
  20. Wahlund B, Saaf J, Wetterberg L. Clinical symptoms and platelet monoamine oxydase in subgroups and different states of affective disorders. J Affect Disord 1995; 35 : 75–87.
  21. Verkes RJ, Pijl H, Meinders AE, Van Kempen GM. Borderline personality, impulsiveness and platelet monoamine oxydase in bulimia nervosa and recurrent suicidal behavior. Biol Psychiatr 1996; 40 : 173–80.
  22. Fowler JS. Inhibition of monoamine oxydase B in the brain of smokers. Nature 1996; 379 : 733–6.
  23. Spada M, Vigliano P, Battistoni G, et al. Monoamine oxydase inhibitors in phenylketonuria. J Inher Metab Dis 1998; 21 (suppl 2) : 11.
  24. Shih JC, Chen K, Ridd MJ. Monoamine oxydase : from genes to behavior. Ann Rev Neurosci 1999; 22 : 197–217.
  25. Grimsby J, Toth M, Chen K, et al. Increased stress response and phenylethylamine in MAOB-deficient mice. Nat Genet 1997; 17 : 206–10.
  26. Lenders JW, Eisenhofer G, Abeling NG, et al. Specific deficiencies of the MAOA and B isoenzymes of monoamine oxydase are characterized by distinct neurochemical and clinical phenotypes. J Clin Invest 1996; 97 : 1010–9.
  27. Collins FA, Murphy DL, Reiss AL, et al. Clinical, biochemical, and neuropsychiatric evaluation of a patient with a contiguous gene syndrome due to a microdeletion Xp11.3 including the Norrie disease locus and monoamine (MAOA and MAOB) genes. Am J Med Genet 1992; 42 : 127–34.

Les statistiques affichées correspondent au cumul d'une part des vues des résumés de l'article et d'autre part des vues et téléchargements de l'article plein-texte (PDF, Full-HTML, ePub... selon les formats disponibles) sur la platefome Vision4Press.

Les statistiques sont disponibles avec un délai de 48 à 96 heures et sont mises à jour quotidiennement en semaine.

Le chargement des statistiques peut être long.