About the Authors

Dèlia Yubero

Affiliation Department of Clinical Biochemistry and Institut d’Investigació Sanitària Sant Joan de Déu, Hospital Sant Joan de Déu, Barcelona, Spain

Núria Brandi

Affiliations Facultat de Medicina, Universitat de Barcelona, Barcelona, Spain, Molecular and Genetics Medicine Section, Hospital Sant Joan de Déu, Barcelona, Spain

Aida Ormazabal

Affiliations Department of Clinical Biochemistry and Institut d’Investigació Sanitària Sant Joan de Déu, Hospital Sant Joan de Déu, Barcelona, Spain, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain

Àngels Garcia-Cazorla

Affiliations Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain

Belén Pérez-Dueñas

Affiliations Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain

Jaime Campistol

Affiliations Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain

Antonia Ribes

Affiliations Institut de Bioquímica Clínica, Hospital Clínic i Provincial, Barcelona, Spain, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain

Francesc Palau

Affiliations Molecular and Genetics Medicine Section, Hospital Sant Joan de Déu, Barcelona, Spain, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain

Rafael Artuch

Contributed equally to this work with: Rafael Artuch, Judith Armstrong

Affiliations Department of Clinical Biochemistry and Institut d’Investigació Sanitària Sant Joan de Déu, Hospital Sant Joan de Déu, Barcelona, Spain, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain

Judith Armstrong

Contributed equally to this work with: Rafael Artuch, Judith Armstrong

jarmstrong@hsjdbcn.org

Affiliations Molecular and Genetics Medicine Section, Hospital Sant Joan de Déu, Barcelona, Spain, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain

Working Group

The Working Group authors and the corresponding affiliations are provided in the Acknowledgments.

Competing Interests

Dèlia Yubero, Núria Brandi, Aida Ormazabal, Àngels Garcia-Cazorla, Belén Pérez-Dueñas, Jaime Campistol, Antonia Ribes, Francesc Palau, Rafael Artuch and Judith Armstrong declare that they have no conflict of interest.

Author Contributions

Conceived and designed the experiments: DY JA RA. Performed the experiments: DY NB JA. Analyzed the data: DY JA. Contributed reagents/materials/analysis tools: DY NB AO AGC BPD JC AR FP RA JA. Wrote the paper: DY NB AO AGC BPD JC AR FP RA JA.