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Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism.
Yubero, Dèlia; Brandi, Núria; Ormazabal, Aida; Garcia-Cazorla, Àngels; Pérez-Dueñas, Belén; Campistol, Jaime; Ribes, Antonia; Palau, Francesc; Artuch, Rafael; Armstrong, Judith.
Affiliation
  • Yubero D; Department of Clinical Biochemistry and Institut d'Investigació Sanitària Sant Joan de Déu, Hospital Sant Joan de Déu, Barcelona, Spain.
  • Brandi N; Facultat de Medicina, Universitat de Barcelona, Barcelona, Spain.
  • Ormazabal A; Molecular and Genetics Medicine Section, Hospital Sant Joan de Déu, Barcelona, Spain.
  • Garcia-Cazorla À; Department of Clinical Biochemistry and Institut d'Investigació Sanitària Sant Joan de Déu, Hospital Sant Joan de Déu, Barcelona, Spain.
  • Pérez-Dueñas B; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain.
  • Campistol J; Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.
  • Ribes A; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain.
  • Palau F; Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.
  • Artuch R; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain.
  • Armstrong J; Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.
PLoS One ; 11(5): e0156359, 2016.
Article in En | MEDLINE | ID: mdl-27243974
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: High-Throughput Nucleotide Sequencing / Metabolism, Inborn Errors Limits: Humans Language: En Journal: PLoS One Journal subject: CIENCIA / MEDICINA Year: 2016 Document type: Article Affiliation country: Spain Country of publication: United States
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: High-Throughput Nucleotide Sequencing / Metabolism, Inborn Errors Limits: Humans Language: En Journal: PLoS One Journal subject: CIENCIA / MEDICINA Year: 2016 Document type: Article Affiliation country: Spain Country of publication: United States