1. Department of Pediatrics Hospital de Figueres Spain
2. Department of Experimental and Health Sciences Universitat Pompeu Fabra (UPF) Barcelona Spain
3. Genomics Core Facility Department of Experimental and Health Sciences Universitat Pompeu Fabra (UPF) Barcelona Spain
4. Proteomics Unit Centre de Regulació Genòmica (CRG) Barcelona Spain
5. Barcelona Institute of Science and Technology (BIST) Barcelona Spain
6. Inborn Errors of Metabolism Section Laboratory of Biochemistry and Molecular Genetics Hospital Clínic Barcelona Spain
7. Hospital Sant Joan de Déu Barcelona Spain
8. Department of Pathology Hospital Clínic Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) University of Barcelona Spain
9. Hospital Clínic Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) Centre for Biomedical Research on Rare Diseases (CIBER‐ER) University of Barcelona Spain
10. Research Programme on Biomedical Informatics Institut Hospital del Mar d’Investigacions Mèdiques (IMIM) Barcelona Spain