Autoimmune Encephalitis and Autism Spectrum Disorder

por Whiteley, Paul, Marlow, Ben, Kapoor, Ritika R., Blagojevic-Stokic, Natasa, Sala, Regina
Publicado 2021

Neurodevelopmental impairments in children with septo-optic dysplasia spectrum conditions: a systematic review

por Mann, Amy, Aghababaie, Arameh, Kalitsi, Jennifer, Martins, Daniel, Paloyelis, Yannis, Kapoor, Ritika R.
Publicado 2023

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

por Arya, Ved Bhushan, Kalitsi, Jennifer, Hickey, Ann, Flanagan, Sarah E, Kapoor, Ritika R
Publicado 2019

Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism

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

Central Diabetes Insipidus in Children and Adolescents: Twenty-Six Year Experience from a Single Centre

por Korkmaz, Hüseyin Anil, Kapoor, Ritika R, Kalitsi, Jennifer, Aylwin, Simon JB, Buchanan, Charles R, Arya, Ved Bhushan
Publicado 2022

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

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

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

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

Pituitary apoplexy in an adolescent male with macroprolactinoma presenting as middle cerebral artery territory infarction

por Agrawal, Pankaj, Newbold, Sally, Busaidi, Ayisha Al, Kapoor, Ritika R, Thomas, Nick, Aylwin, Simon JB, Buchanan, Charles R, Arya, Ved Bhushan
Publicado 2022

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

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

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

por Gϋemes, Maria, Rahman, Sofia Asim, Kapoor, Ritika R., Flanagan, Sarah, Houghton, Jayne A. L., Misra, Shivani, Oliver, Nick, Dattani, Mehul Tulsidas, Shah, Pratik
Publicado 2020

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

por 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
Publicado 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

por 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.
Publicado 2020

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

por 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
Publicado 2009