1. Paris Cité University, INSERM UMR1163, Imagine Institute , 75015 Paris , France
2. Pediatric Neurology Unit, Department of Pediatrics, Complejo Hospitalario de Navarra, Navarrabiomed , 31008 Pamplona , Spain
3. Children’s Medically Complex Diseases Unit, Department of Pediatrics, Complejo Hospitalario de Navarra , 31008 Pamplona , Spain
4. Department of Molecular Medicine, Unit of Biochemistry, University of Pavia , 27100 Pavia , Italy
5. Service de Neuropédiatrie, pavillon Martainville, Hôpital Charles Nicolle , 76031, Rouen , France
6. INSERM UMR1193, Paris-Saclay University , F-92220 Châtenay-Malabry , France
7. Service d’Imagerie pédiatrique, AP-HP, Hôpital Necker-Enfants malades , F-75015 Paris , France
8. Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L’Hospitalet de Llobregat , 08908, Barcelona, Catalonia , Spain
9. Centre for Biomedical Research in Network on Rare Diseases (CIBERER), Instituto de Salud Carlos III , 28029, Madrid , Spain
10. Unitat de Neuromuscular, Neurology Department , Hospital Universitari de Bellvitge - IDIBELL, L'Hospitalet de Llobregat, Barcelona , Spain
11. AP-HP, Biochimie métabolique et cellulaire, Hôpital Bichat , F-75018, Paris , France
12. Catalan Institution of Research and Advanced Studies (ICREA) , 08010 Barcelona, Catalonia , Spain
13. Service de Génétique clinique, Centre de référence pour les maladies osseuses constitutionnelles, AP-HP, Hôpital Necker-Enfants malades , F-75015 Paris , France