Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism

Dèlia Yubero; Núria Brandi; Aida Ormazabal; Àngels Garcia-Cazorla; Belén Pérez-Dueñas; Jaime Campistol; Antonia Ribes; Francesc Palau; Rafael Artuch; Judith Armstrong; Working Group

doi:10.1371/journal.pone.0156359

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Peer-reviewed

Research Article

Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism

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

* E-mail: 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.
⨯

Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism

Dèlia Yubero,
Núria Brandi,
Aida Ormazabal,
Àngels Garcia-Cazorla,
Belén Pérez-Dueñas,
Jaime Campistol,
Antonia Ribes,
Francesc Palau,
Rafael Artuch,
Judith Armstrong

Published: May 31, 2016
https://doi.org/10.1371/journal.pone.0156359

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