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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. Among authors: bonnefont jp. J Clin Invest. 1997 Aug 15;100(4):802-7. doi: 10.1172/JCI119594. J Clin Invest. 1997. PMID: 9259578 Free PMC article.
Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome.
Rotig A, Colonna M, Bonnefont JP, Blanche S, Fischer A, Saudubray JM, Munnich A. Rotig A, et al. Among authors: bonnefont jp. Lancet. 1989 Apr 22;1(8643):902-3. doi: 10.1016/s0140-6736(89)92897-3. Lancet. 1989. PMID: 2564980 No abstract available.
Clinical approach to inherited metabolic disorders in neonates.
Saudubray JM, Narcy C, Lyonnet L, Bonnefont JP, Poll The BT, Munnich A. Saudubray JM, et al. Among authors: bonnefont jp. Biol Neonate. 1990;58 Suppl 1:44-53. doi: 10.1159/000243299. Biol Neonate. 1990. PMID: 2265219 Review.
Deficiency of carnitine palmitoyltransferase I.
Bonnefont JP, Haas R, Wolff J, Thuy LP, Buchta R, Carroll JE, Saudubray JM, Demaugre F, Nyhan WL. Bonnefont JP, et al. J Child Neurol. 1989 Jul;4(3):198-203. doi: 10.1177/088307388900400310. J Child Neurol. 1989. PMID: 2768784
229 results