Search Results - "Bansept, Claire"

mTOR Inhibitors for the Treatment of Severe Congenital Hyperinsulinism: Perspectives on Limited Therapeutic Success by Szymanowski, Marie, Estebanez, Maria Salomon, Padidela, Raja, Han, Bing, Mosinska, Karolina, Stevens, Adam, Damaj, Lena, Pihan-Le Bars, Florence, Lascouts, Emilie, Reynaud, Rachel, Ferreira, Catherine, Bansept, Claire, de Lonlay, Pascale, Saint-Martin, Cécile, Dunne, Mark J, Banerjee, Indraneel, Arnoux, Jean-Baptiste

“…Context: Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in neonates and infants. In medically unresponsive CHI, subtotal…”
Get full text

Copy Number Variation and Epilepsy: State of the Art in the Era of High-Throughput Sequencing—A Multicenter Cohort Study by Baer, Sarah, Schalk, Audrey, Miguet, Marguerite, Schaefer, Élise, El Chehadeh, Salima, Ginglinger, Emmanuelle, de Saint Martin, Anne, Abi Wardé, Marie-Thérèse, Laugel, Vincent, de Feraudy, Yvan, Gauer, Lucas, Hirsch, Edouard, Boulay, Clotilde, Bansept, Claire, Bolocan, Anamaria, Kitadinis, Ismini, Gouronc, Aurélie, Gérard, Bénédicte, Piton, Amélie, Scheidecker, Sophie

“…Genetic epilepsy diagnosis is increasing due to technological advancements. Although the use of molecular diagnosis is increasing, chromosomal microarray…”
Get full text

UQCRC2-related mitochondrial complex III deficiency, about 7 patients by Bansept, Claire, Gaignard, Pauline, Lebigot, Elise, Eyer, Didier, Delplancq, Geoffroy, Hoebeke, Célia, Mazodier, Karin, Ledoyen, Anaïs, Rouzier, Cécile, Fragaki, Konstantina, Ait-El-Mkadem Saadi, Samira, Philippe, Christophe, Bruel, Ange-Line, Faivre, Laurence, Feillet, François, Abi Warde, Marie-Thérèse

“…•UQCRC2 deficiency is characterised by hypoglycaemia with hyperlactatemia and recurrent episodes of severe hepatic failure.•Decompensations are frequent in…”
Get full text