Recommendations from the pediatric endocrine society for evaluation and management of persistent hypoglycemia in neonates, infants, and children PS Thornton, CA Stanley, DD De Leon, D Harris, MW Haymond, ... The Journal of pediatrics 167 (2), 238-245, 2015 | 604 | 2015 |
Insulin Mutation Screening in 1,044 Patients With Diabetes: Mutations in the INS Gene Are a Common Cause of Neonatal Diabetes but a Rare Cause of Diabetes … EL Edghill, SE Flanagan, AM Patch, C Boustred, A Parrish, B Shields, ... Diabetes 57 (4), 1034-1042, 2008 | 476 | 2008 |
Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency RS Jackson, JWM Creemers, IS Farooqi, ML Raffin-Sanson, A Varro, ... The Journal of clinical investigation 112 (10), 1550-1560, 2003 | 412 | 2003 |
Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement. F Brioude, JM Kalish, A Mussa, AC Foster, J Bliek, GB Ferrero, ... Nat Rev Endocrinol 14 (4), 229-249, 2018 | 392 | 2018 |
Practical management of hyperinsulinism in infancy A Aynsley-Green, K Hussain, J Hall, JM Saudubray, C Nihoul-Fekete, ... Archives of Disease in Childhood-Fetal and Neonatal Edition 82 (2), F98-F107, 2000 | 373 | 2000 |
Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of β-oxidation in insulin secretion PT Clayton, S Eaton, A Aynsley-Green, M Edginton, K Hussain, ... The Journal of clinical investigation 108 (3), 457-465, 2001 | 370 | 2001 |
A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene M Bitner-Glindzicz, KJ Lindley, P Rutland, D Blaydon, VV Smith, PJ Milla, ... Nature genetics 26 (1), 56-60, 2000 | 369 | 2000 |
Noninvasive Diagnosis of Focal Hyperinsulinism of Infancy With [18F]-DOPA Positron Emission Tomography T Otonkoski, K Näntö-Salonen, M Seppänen, R Veijola, H Huopio, ... Diabetes 55 (1), 13-18, 2006 | 316 | 2006 |
Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis MN Weedon, I Cebola, AM Patch, SE Flanagan, E De Franco, R Caswell, ... Nature genetics 46 (1), 61-64, 2014 | 307 | 2014 |
What is a normal blood glucose? M Güemes, SA Rahman, K Hussain Archives of disease in childhood 101 (6), 569-574, 2016 | 292 | 2016 |
Re-evaluating “transitional neonatal hypoglycemia”: mechanism and implications for management CA Stanley, PJ Rozance, PS Thornton, DD De Leon, D Harris, ... The Journal of pediatrics 166 (6), 1520-1525. e1, 2015 | 277 | 2015 |
Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism RR Kapoor, SE Flanagan, VB Arya, JP Shield, S Ellard, K Hussain European journal of endocrinology 168 (4), 557-564, 2013 | 253 | 2013 |
The genetic basis of congenital hyperinsulinism C James, RR Kapoor, D Ismail, K Hussain Journal of medical genetics 46 (5), 289-299, 2009 | 228 | 2009 |
Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis I Garin, EL Edghill, I Akerman, O Rubio-Cabezas, I Rica, JM Locke, ... Proceedings of the National Academy of Sciences 107 (7), 3105-3110, 2010 | 219 | 2010 |
An activating mutation of AKT2 and human hypoglycemia K Hussain, B Challis, N Rocha, F Payne, M Minic, A Thompson, A Daly, ... Science 334 (6055), 474-474, 2011 | 196 | 2011 |
Hyperinsulinaemic hypoglycaemia RR Kapoor, SE Flanagan, C James, J Shield, S Ellard, K Hussain Archives of Disease in Childhood 94 (6), 450-457, 2009 | 186 | 2009 |
Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management S Senniappan, B Shanti, C James, K Hussain Journal of inherited metabolic disease 35, 589-601, 2012 | 180 | 2012 |
Diagnosis and management of hyperinsulinaemic hypoglycaemia of infancy K Hussain Hormone Research in Paediatrics 69 (1), 2-13, 2007 | 169 | 2007 |
Congenital hyperinsulinism: diagnosis and treatment update H Demirbilek, K Hussain Journal of clinical research in pediatric endocrinology 9 (Suppl 2), 69, 2017 | 166 | 2017 |
Analysis of transcription factors key for mouse pancreatic development establishes NKX2-2 and MNX1 mutations as causes of neonatal diabetes in man SE Flanagan, E De Franco, HL Allen, M Zerah, MM Abdul-Rasoul, ... Cell metabolism 19 (1), 146-154, 2014 | 166 | 2014 |