Exceptional diazoxide sensitivity in hyperinsulinaemic hypoglycaemia due to a novel HNF4A mutation

by Arya, Ved Bhushan, Kalitsi, Jennifer, Hickey, Ann, Flanagan, Sarah E, Kapoor, Ritika R
Published in Endocrinol Diabetes Metab Case Rep (2019)

3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency and Hyperinsulinemic Hypoglycemia: Characterization of a Novel Mutation and Severe Dietary Protein Sensitivity

by Kapoor, Ritika R., James, Chela, Flanagan, Sarah E., Ellard, Sian, Eaton, Simon, Hussain, Khalid
Published in J Clin Endocrinol Metab (2009)

Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism

by Kapoor, Ritika R, Flanagan, Sarah E, Arya, Ved Bhushan, Shield, Julian P, Ellard, Sian, Hussain, Khalid
Published 2013

Clinical and molecular characterisation of hyperinsulinaemic hypoglycaemia in infants born small-for-gestational age

by Arya, Ved Bhushan, Flanagan, Sarah E, Kumaran, Anitha, Shield, Julian P, Ellard, Sian, Hussain, Khalid, Kapoor, Ritika R
Published 2013

Measuring the Impact of Diagnostic Decision Support on the Quality of Clinical Decision Making: Development of a Reliable and Valid Composite Score

by Ramnarayan, Padmanabhan, Kapoor, Ritika R., Coren, Michael, Nanduri, Vasantha, Tomlinson, Amanda L., Taylor, Paul M., Wyatt, Jeremy C., Britto, Joseph F.
Published 2003

Leucine-sensitive hyperinsulinaemic hypoglycaemia in patients with loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase

by Heslegrave, Amanda J, Kapoor, Ritika R, Eaton, Simon, Chadefaux, Bernadette, Akcay, Teoman, Simsek, Enver, Flanagan, Sarah E, Ellard, Sian, Hussain, Khalid
Published 2012

The Heterogeneity of Focal Forms of Congenital Hyperinsulinism

by Ismail, Dunia, Kapoor, Ritika R., Smith, Virpi V., Ashworth, Michael, Blankenstein, Oliver, Pierro, Agostino, Flanagan, Sarah E., Ellard, Sian, Hussain, Khalid
Published in J Clin Endocrinol Metab (2012)

Hyperinsulinism–hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype–phenotype correlations

by Kapoor, Ritika R, Flanagan, Sarah E, Fulton, Piers, Chakrapani, Anupam, Chadefaux, Bernadette, Ben-Omran, Tawfeg, Banerjee, Indraneel, Shield, Julian P, Ellard, Sian, Hussain, Khalid
Published 2009

Hyperinsulinemic hypoglycemia in children and adolescents: Recent advances in understanding of pathophysiology and management

by Gϋemes, Maria, Rahman, Sofia Asim, Kapoor, Ritika R., Flanagan, Sarah, Houghton, Jayne A. L., Misra, Shivani, Oliver, Nick, Dattani, Mehul Tulsidas, Shah, Pratik
Published in Rev Endocr Metab Disord (2020)

Genome-Wide Homozygosity Analysis Reveals HADH Mutations as a Common Cause of Diazoxide-Responsive Hyperinsulinemic-Hypoglycemia in Consanguineous Pedigrees

by Flanagan, Sarah E., Patch, Ann-Marie, Locke, Jonathan M., Akcay, Teoman, Simsek, Enver, Alaei, Mohammadreza, Yekta, Zeinab, Desai, Meena, Kapoor, Ritika R., Hussain, Khalid, Ellard, Sian
Published 2011

Using referral rates for genetic testing to determine the incidence of a rare disease: The minimal incidence of congenital hyperinsulinism in the UK is 1 in 28,389

by Yau, Daphne, Laver, Thomas W., Dastamani, Antonia, Senniappan, Senthil, Houghton, Jayne A. L., Shaikh, Guftar, Cheetham, Tim, Mushtaq, Talat, Kapoor, Ritika R., Randell, Tabitha, Ellard, Sian, Shah, Pratik, Banerjee, Indraneel, Flanagan, Sarah E.
Published in PLoS One (2020)

Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinism

by Shimomura, Kenju, Flanagan, Sarah E, Zadek, Brittany, Lethby, Mark, Zubcevic, Lejla, Girard, Christophe A J, Petz, Oliver, Mannikko, Roope, Kapoor, Ritika R, Hussain, Khalid, Skae, Mars, Clayton, Peter, Hattersley, Andrew, Ellard, Sian, Ashcroft, Frances M
Published 2009

Insulin Mutation Screening in 1044 Patients with Diabetes: Mutations in the INS gene are a Common Cause of Neonatal Diabetes but a Rare Cause of Diabetes Diagnosed in Childhood or...

by Edghill, Emma L., Flanagan, Sarah E., Patch, Ann-Marie, Boustred, Chris, Parrish, Andrew, Shields, Beverley, Shepherd, Maggie H., Hussain, Khalid, Kapoor, Ritika R., Malecki, Maciej, MacDonald, Michael J., Støy, Julie, Steiner, Donald F., Philipson, Louis H., Bell, Graeme I., Hattersley, Andrew T., Ellard, Sian
Published in Diabetes (2008)