EDP Sciences logo
Subscriber Authentication Point
Search
Menu
Home All issues Volume 21 / No 11 (Novembre 2005) Med Sci (Paris), 21 11 (2005) 981-986 References
Free Access
Issue
Med Sci (Paris)
Volume 21, Number 11, Novembre 2005
Page(s) 981 - 986
Section M/S revues
DOI https://doi.org/10.1051/medsci/20052111981
Published online 15 November 2005
  1. Fernandes J, Saudubray JM, Van den Berghe G. Inborn metabolic diseases. Diagnosis and treatment, 3rd ed. Heidelberg : Springer, 2001. [Google Scholar]
  2. Scriver C, Beaudet A, Sly W, Valle D. The metabolic and molecular bases of inherited disease, 8th ed. New York : MacGraw Hill, 2001. [Google Scholar]
  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. [Google Scholar]
  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. [Google Scholar]
  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. [Google Scholar]
  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. [Google Scholar]
  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. [Google Scholar]
  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. [Google Scholar]
  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. [Google Scholar]
  10. Huck JH, Verhoeven NM, van Hagen JM, et al. Clinical presentations of patients with polyol abnormalities. Neuropediatrics 2004; 35 : 167–73. [Google Scholar]
  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. [Google Scholar]
  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. [Google Scholar]
  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. [Google Scholar]
  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. [Google Scholar]
  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. [Google Scholar]
  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. [Google Scholar]
  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. [Google Scholar]
  18. Yancey PH, Clark ME, Hand SC, et al. Living with water stress: evolution of osmolyte systems. Science 1982; 217 : 1214–22. [Google Scholar]
  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. [Google Scholar]
  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. [Google Scholar]
  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. [Google Scholar]
  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. [Google Scholar]
  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. [Google Scholar]
  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. [Google Scholar]
  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. [Google Scholar]
  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. [Google Scholar]

Current usage metrics show cumulative count of Article Views (full-text article views including HTML views, PDF and ePub downloads, according to the available data) and Abstracts Views on Vision4Press platform.

Data correspond to usage on the plateform after 2015. The current usage metrics is available 48-96 hours after online publication and is updated daily on week days.

Initial download of the metrics may take a while.