GM3 synthase deficiency in non-Amish patients
Solveig Heide, Marie‐Line Jacquemont, David Cheillan, M. Renouil, Marilyn Tallot, Charles E. Schwartz, J. Miquel, Marc Bintner, Diana Rodriguez, Françoise Darcel, Julien Buratti, Damien Haye, Sandrine Passemard, Domitille Gras, Laurence Perrin, Yline Capri, Bénédicte Gérard, Amélie Piton, Boris Keren, Christel Thauvin‐Robinet, Yannis Duffourd, Laurence Bonhomme‐Faivre, Charlotte Pöe, Anne Pervillé, Delphine Héron, Julien Thévenon, Lionel Arnaud, Éric Leguern, L. La Selva, Annalisa Vetro, Renzo Guerrini, Caroline Nava, Cyril Mignot
Topics & Concepts
MicrocephalyEpilepsyFounder effectHaplotypeGeneticsPhenotypeIntellectual disabilityAtrophyLoss functionAlleleMedicineWest SyndromeBiologyGenePsychiatryGlycosylation and Glycoproteins ResearchEscherichia coli research studiesLysosomal Storage Disorders Research