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Page 1
Respiratory chain defects may present only with hypoglycemia.
Mochel F, Slama A, Touati G, Desguerre I, Giurgea I, Rabier D, Brivet M, Rustin P, Saudubray JM, DeLonlay P. Mochel F, et al. J Clin Endocrinol Metab. 2005 Jun;90(6):3780-5. doi: 10.1210/jc.2005-0009. Epub 2005 Mar 22. J Clin Endocrinol Metab. 2005. PMID: 15784700
Familial focal congenital hyperinsulinism.
Ismail D, Smith VV, de Lonlay P, Ribeiro MJ, Rahier J, Blankenstein O, Flanagan SE, Bellanné-Chantelot C, Verkarre V, Aigrain Y, Pierro A, Ellard S, Hussain K. Ismail D, et al. Among authors: de lonlay p. J Clin Endocrinol Metab. 2011 Jan;96(1):24-8. doi: 10.1210/jc.2010-1524. Epub 2010 Oct 13. J Clin Endocrinol Metab. 2011. PMID: 20943779 Free PMC article.
An activating mutation of AKT2 and human hypoglycemia.
Hussain K, Challis B, Rocha N, Payne F, Minic M, Thompson A, Daly A, Scott C, Harris J, Smillie BJ, Savage DB, Ramaswami U, De Lonlay P, O'Rahilly S, Barroso I, Semple RK. Hussain K, et al. Among authors: de lonlay p. Science. 2011 Oct 28;334(6055):474. doi: 10.1126/science.1210878. Epub 2011 Oct 6. Science. 2011. PMID: 21979934 Free PMC article.
Hyperinsulinaemic hypoglycaemia.
Arya VB, Mohammed Z, Blankenstein O, De Lonlay P, Hussain K. Arya VB, et al. Among authors: de lonlay p. Horm Metab Res. 2014 Mar;46(3):157-70. doi: 10.1055/s-0034-1367063. Epub 2014 Feb 20. Horm Metab Res. 2014. PMID: 24557504 Review.
mTOR Inhibitors for the Treatment of Severe Congenital Hyperinsulinism: Perspectives on Limited Therapeutic Success.
Szymanowski M, Estebanez MS, Padidela R, Han B, Mosinska K, Stevens A, Damaj L, Pihan-Le Bars F, Lascouts E, Reynaud R, Ferreira C, Bansept C, de Lonlay P, Saint-Martin C, Dunne MJ, Banerjee I, Arnoux JB. Szymanowski M, et al. Among authors: de lonlay p. J Clin Endocrinol Metab. 2016 Dec;101(12):4719-4729. doi: 10.1210/jc.2016-2711. Epub 2016 Oct 3. J Clin Endocrinol Metab. 2016. PMID: 27691052
Acute insulin responses to calcium and tolbutamide do not differentiate focal from diffuse congenital hyperinsulinism.
Giurgea I, Laborde K, Touati G, Bellanné-Chantelot C, Nassogne MC, Sempoux C, Jaubert F, Khoa N, Chigot V, Rahier J, Brunelle F, Nihoul-Fékété C, Dunne MJ, Stanley C, Saudubray JM, Robert JJ, de Lonlay P. Giurgea I, et al. Among authors: de lonlay p. J Clin Endocrinol Metab. 2004 Feb;89(2):925-9. doi: 10.1210/jc.2003-030941. J Clin Endocrinol Metab. 2004. PMID: 14764815
Congenital hyperinsulinism: pancreatic [18F]fluoro-L-dihydroxyphenylalanine (DOPA) positron emission tomography and immunohistochemistry study of DOPA decarboxylase and insulin secretion.
de Lonlay P, Simon-Carre A, Ribeiro MJ, Boddaert N, Giurgea I, Laborde K, Bellanné-Chantelot C, Verkarre V, Polak M, Rahier J, Syrota A, Seidenwurm D, Nihoul-Fékété C, Robert JJ, Brunelle F, Jaubert F. de Lonlay P, et al. J Clin Endocrinol Metab. 2006 Mar;91(3):933-40. doi: 10.1210/jc.2005-1713. Epub 2006 Jan 10. J Clin Endocrinol Metab. 2006. PMID: 16403819
358 results