PREPL deficiency: delineation of the phenotype and development of a functional blood assay (S46.008)

Conclusions:This novel blood test facilitates the diagnosis and confirmation of PREPL deficiency. Together with the emerging knowledge about the particular clinical course and the possible treatments for PREPL deficiency, this should enable better clinical care for these patients.Study Supported by:FWO Vlaanderen (Luc Régal and John Creemers)European Community 7th FP grant 223077 (John Creemers)Marie-Marguerite Delacroix Fund (Luc Régal)Prader-Willi research foundation (Luc Régal and John Creemers)Disclosure: Dr. Regal has received personal compensation for activities with Genzyme and Shire. Dr. Martensson has nothing to disclose. Dr. Maystadt has nothing to disclose. Dr. Voermans has nothing to disclose. Dr. Lederer has nothing to disclose. Dr. Burlina has nothing to disclose. Dr. Juan Fita has nothing to disclose. Dr. Hoogeboom has nothing to disclose. Dr. Olsson Engman has nothing to disclose. Dr. Hollemans has nothing to disclose. Dr. Schouten has nothing to disclose. Dr. Meulemans has nothing to disclose. Dr. Jonson has nothing to disclose. Dr. Francois has nothing to disclose. Dr. Ortega has nothing to disclose. Dr. Kamsteeg has nothing to disclose. Dr. Creemers has nothing to disclose.

Source: Neurology - April 17, 2017 Category: Neurology Authors: Regal, L., Martensson, E., Maystadt, I., Voermans, N., Lederer, D., Burlina, A., Fita, M. J. J., Hoogeboom, A. J. M., Engman, M. O., Hollemans, T., Schouten, M., Meulemans, S., Jonson, T., Francois, I., Ortega, D. G., Kamsteeg, E.-J., Creemers, J. Tags: Child Neurology: Molecular Biology to Clinical Trials Source Type: research