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Page 1
Genetic hypoglycaemia in infancy and childhood: pathophysiology and diagnosis.
Saudubray JM, de Lonlay P, Touati G, Martin D, Nassogne MC, Castelnau P, Sevin C, Laborde C, Baussan C, Brivet M, Vassault A, Rabier D, Bonnefont JP, Kamoun P. Saudubray JM, et al. Among authors: de lonlay p. J Inherit Metab Dis. 2000 May;23(3):197-214. doi: 10.1023/a:1005675827612. J Inherit Metab Dis. 2000. PMID: 10863937 Review. No abstract available.
Recognition and management of fatty acid oxidation defects: a series of 107 patients.
Saudubray JM, Martin D, de Lonlay P, Touati G, Poggi-Travert F, Bonnet D, Jouvet P, Boutron M, Slama A, Vianey-Saban C, Bonnefont JP, Rabier D, Kamoun P, Brivet M. Saudubray JM, et al. Among authors: de lonlay p. J Inherit Metab Dis. 1999 Jun;22(4):488-502. doi: 10.1023/a:1005556207210. J Inherit Metab Dis. 1999. PMID: 10407781 Review.
Dominantly inherited hyperinsulinaemic hypoglycaemia.
de Lonlay P, Giurgea I, Sempoux C, Touati G, Jaubert F, Rahier J, Ribeiro M, Brunelle F, Nihoul-Fékété C, Robert JJ, Saudubray JM, Stanley C, Bellanné-Chantelot C. de Lonlay P, et al. J Inherit Metab Dis. 2005;28(3):267-76. doi: 10.1007/s10545-005-7057-0. J Inherit Metab Dis. 2005. PMID: 15868462 Review.
Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy.
de Lonlay P, Fournet JC, Rahier J, Gross-Morand MS, Poggi-Travert F, Foussier V, Bonnefont JP, Brusset MC, Brunelle F, Robert JJ, Nihoul-Fékété C, Saudubray JM, Junien C. de Lonlay P, et al. J Clin Invest. 1997 Aug 15;100(4):802-7. doi: 10.1172/JCI119594. J Clin Invest. 1997. PMID: 9259578 Free PMC article.
[Hereditary metabolic diseases in adults].
Saudubray JM, Nuoffer JM, de Lonlay P, Castelnau P, Touati G. Saudubray JM, et al. Among authors: de lonlay p. Rev Med Interne. 1998;19 Suppl 3:366S-375S. Rev Med Interne. 1998. PMID: 9885858 Review. French. No abstract available.
362 results