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Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia.
Verkarre V, Fournet JC, de Lonlay P, Gross-Morand MS, Devillers M, Rahier J, Brunelle F, Robert JJ, Nihoul-Fékété C, Saudubray JM, Junien C. Verkarre V, et al. Among authors: de lonlay p. J Clin Invest. 1998 Oct 1;102(7):1286-91. doi: 10.1172/JCI4495. J Clin Invest. 1998. PMID: 9769320 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.
Liver transplantation in urea cycle disorders.
Saudubray JM, Touati G, Delonlay P, Jouvet P, Narcy C, Laurent J, Rabier D, Kamoun P, Jan D, Revillon Y. Saudubray JM, et al. Eur J Pediatr. 1999 Dec;158 Suppl 2:S55-9. doi: 10.1007/pl00014323. Eur J Pediatr. 1999. PMID: 10603100
Liver transplantation in propionic acidaemia.
Saudubray JM, Touati G, Delonlay P, Jouvet P, Schlenzig J, Narcy C, Laurent J, Rabier D, Kamoun P, Jan D, Revillon Y. Saudubray JM, et al. Eur J Pediatr. 1999 Dec;158 Suppl 2:S65-9. doi: 10.1007/pl00014325. Eur J Pediatr. 1999. PMID: 10603102
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.
Unbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism: association with a reduction to homozygosity of a mutation in ABCC8 or KCNJ11.
Fournet JC, Mayaud C, de Lonlay P, Gross-Morand MS, Verkarre V, Castanet M, Devillers M, Rahier J, Brunelle F, Robert JJ, Nihoul-Fékété C, Saudubray JM, Junien C. Fournet JC, et al. Among authors: de lonlay p. Am J Pathol. 2001 Jun;158(6):2177-84. doi: 10.1016/S0002-9440(10)64689-5. Am J Pathol. 2001. PMID: 11395395 Free PMC article.
362 results