ESPE Abstracts

Clinical Management of the Mitchell-Riley Syndrome Due to RFX6 Gene Mutations: Aggressive Support Results in Improved Outcome | ESPE2016
Amelie Poidvin; Vikash Chandra; Anne-Laure Fauret-Amsellem; Helene Cave; Jacques Beltrand; Nadia Tubiana-Rufi; Jean-Claude Carel
http://abstracts.eurospe.org/hrp/0086/hrp0086rfc5.6.htm
Published: 2016-08-19

Persistent Beneficial Metabolic Effect after Five Years in a Cohort of 28 Subjects with Neonatal Diabetes owing to Potassium Channel Mutation and Transferred from Insulin to Sulfonylureas | ESPE2016
Marie Hoarau; Anne-Laure Fauret; Kanetee Busiah; Cecile Godot; Sandra Colas; Jean-Marc Treluyer; Raphael Scharfmann; Helene Cave
http://abstracts.eurospe.org/hrp/0086/hrp0086fc5.4.htm
Published: 2016-08-19

BOREALIN Mutations in Thyroid Dysgenesis Reveal a New Function of this Protein in Cell Adhesion and Migration | ESPE2016
Aurore Carre; Athanasia Stoupa; Dulanjalee Karyiawasam; Manelle Gueriouz; Cyrille Ramond; Sebastien Gaujoux; Nicolas Glaser; Jul
http://abstracts.eurospe.org/hrp/0086/hrp0086ha2.htm
Published: 2016-08-19

Sulfonylurea Therapy Corrects Hypotonia, Attention Deficits, Improves Complex Neuropsychological Functions and Motricity in Patients with Neonatal Diabetes Secondary to Mutation in Potassium Channel Subunits, Through a CNS Effect | ESPE2014
Jacques Beltrand; Laurence Vaivre-Douvret; Kanetee Busiah; Emmanuel Fournier; Nathalie Boddaert; Myriam Vera; Nadia Bahi-Buisson
http://abstracts.eurospe.org/hrp/0082/hrp0082fc9.6.htm
Published: 2014-08-28

Beta1-Tubulin Gene (TUBB1) Mutations Cause Thyroid Dysgenesis Associated to Abnormal Platelet Morphology and Hyper-Aggregation | ESPE2018
Aurore Carre; Athanasia Stoupa; Frederic Adam; Dulanjalee Kariyawasam; Catherine Strassel; Sanjay Gawade; Gabor Szinnai; Alexand
http://abstracts.eurospe.org/hrp/0089/hrp0089fc5.1.htm
Published: 2018-08-28