Accès gratuit
Med Sci (Paris)
Volume 21, Numéro 11, Novembre 2005
Page(s) 981 - 986
Section M/S revues
Publié en ligne 15 novembre 2005
  1. Fernandes J, Saudubray JM, Van den Berghe G. Inborn metabolic diseases. Diagnosis and treatment, 3rd ed. Heidelberg : Springer, 2001.
  2. Scriver C, Beaudet A, Sly W, Valle D. The metabolic and molecular bases of inherited disease, 8th ed. New York : MacGraw Hill, 2001.
  3. Saudubray JM, Ogier H, Bonnefont JP, et al. Clinical approach to inherited metabolic diseases in the neonatal period : a 20-year survey. J Inherit Metab Dis 1989; 12 (suppl 1) : 25–41.
  4. Rosenberg EH, Almeida LS, Kleefstra T, et al. High prevalence of SLC6A8 deficiency in X-linked mental retardation. Am J Hum Genet 2004; 75 : 97–105.
  5. Battini R, Leuzzi V, Carducci C, et al. Creatine depletion in a new case with AGAT deficiency : clinical and genetic study in a large pedigree. Mol Genet Metab 2002; 77 : 326–31.
  6. Stockler S, Hanefeld F, Frahm J. Creatine replacement therapy in guanidinoacetate methyltransferase deficiency, a novel inborn error of metabolism. Lancet 1996; 348 : 789–90.
  7. Sipila I. Inhibition of arginine-glycine amidinotransferase by ornithine. A possible mechanism for the muscular and chorioretinal atrophies in gyrate atrophy of the choroid and retina with hyperornithinemia. Biochim Biophys Acta 1980; 613 : 79–84.
  8. Sipila I, Simell O, Arjomaa P. Gyrate atrophy of the choroid and retina with hyperornithinemia. Deficient formation of guanidinoacetic acid from arginine. J Clin Invest 1980; 66 : 684–7.
  9. Santinelli R, Costagliola C, Tolone C, et al. Low-protein diet and progression of retinal degeneration in gyrate atrophy of the choroid and retina : a twenty-six-year follow-up. J Inherit Metab Dis 2004; 27 : 187–96.
  10. Huck JH, Verhoeven NM, van Hagen JM, et al. Clinical presentations of patients with polyol abnormalities. Neuropediatrics 2004; 35 : 167–73.
  11. Huck JH, Verhoeven NM, Struys EA, et al. Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy. Am J Hum Genet 2004; 74 : 745–51.
  12. Moolenaar SH, van der Knaap MS, Engelke UF, et al. In vivo and in vitro NMR spectroscopy reveal a putative novel inborn error involving polyol metabolism. NMR Biomed 2001; 14 : 167–76.
  13. Van der Knaap MS, Wevers RA, Struys EA, et al. Leukoencephalopathy associated with a disturbance in the metabolism of polyols. Ann Neurol 1999; 46 : 925–8.
  14. Verhoeven NM, Huck JH, Roos B, et al. Transaldolase deficiency : liver cirrhosis associated with a new inborn error in the pentose phosphate pathway. Am J Hum Genet 2001; 68 : 1086–92.
  15. Verhoeven NM, Wallot M, Huck JH, et al. A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency. J Inherit Metab Dis 2005; 28 : 169–79.
  16. Jauniaux E, Hempstock J, Teng C, et al. Polyol concentrations in the fluid compartments of the human conceptus during the first trimester of pregnancy: maintenance of redox potential in a low oxygen environment. J Clin Endocrinol Metab 2005; 90 : 1171–5.
  17. Nicol CJ, Zielenski J, Tsui LC, Wells PG. An embryoprotective role for glucose-6-phosphate dehydrogenase in developmental oxidative stress and chemical teratogenesis. FASEB J 2000; 14 : 111–27.
  18. Yancey PH, Clark ME, Hand SC, et al. Living with water stress: evolution of osmolyte systems. Science 1982; 217 : 1214–22.
  19. Ribeiro MJ, de Lonlay P, Delzescaux T, et al. Characterization of hyperinsulinism in infancy assessed with PET and 18F-fluoro-L-DOPA.J Nucl Med 2005; 46 : 560–6.
  20. De Lonlay-Debeney P, Poggi-Travert F, Fournet JC, et al. Clinical features of 52 neonates with hyperinsulinism. N Engl J Med 1999; 340 : 1169–75.
  21. Rahier J, Sempoux C, Fournet JC, et al. Partial or near-total pancreatectomy for persistent neonatal hyperinsulinaemic hypoglycaemia: the pathologist’s role. Histopathology 1998; 32:15–9.
  22. Sempoux C, Guiot Y, Jaubert F, Rahier J. Focal and diffuse forms of congenital hyperinsulinism: the keys for differential diagnosis. Endocr Pathol 2004; 15 : 241–6.
  23. De Lonlay P, Fournet JC, Rahier J, et al. Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy. J Clin Invest 1997; 100 : 802–7.
  24. Verkarre V, Fournet JC, de Lonlay P, et al. Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia. J Clin Invest 1998; 102 : 1286–91.
  25. Dubois J, Brunelle F, Touati G, et al. Hyperinsulinism in children : diagnostic value of pancreatic venous sampling correlated with clinical, pathological and surgical outcome in 25 cases. Pediatr Radiol 1995; 25 : 512–6.
  26. Ribeiro MJ, Vidailhet M, Loc’h C, et al. Dopaminergic function and dopamine transporter binding assessed with positron emission tomography in Parkinson disease. Arch Neurol 2002;59 : 580–6.

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.