Your browser doesn't support javascript.
loading
Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing.
Vega, Ana I; Medrano, Celia; Navarrete, Rosa; Desviat, Lourdes R; Merinero, Begoña; Rodríguez-Pombo, Pilar; Vitoria, Isidro; Ugarte, Magdalena; Pérez-Cerdá, Celia; Pérez, Belen.
Affiliation
  • Vega AI; Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular-SO UAM-CSIC, Universidad Autónoma de Madrid, Campus de Cantoblanco, Madrid, Spain.
  • Medrano C; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.
  • Navarrete R; Instituto de Investigación La Paz (IdiPAZ), Madrid, Spain.
  • Desviat LR; Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular-SO UAM-CSIC, Universidad Autónoma de Madrid, Campus de Cantoblanco, Madrid, Spain.
  • Merinero B; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.
  • Rodríguez-Pombo P; Instituto de Investigación La Paz (IdiPAZ), Madrid, Spain.
  • Vitoria I; Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular-SO UAM-CSIC, Universidad Autónoma de Madrid, Campus de Cantoblanco, Madrid, Spain.
  • Ugarte M; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.
  • Pérez-Cerdá C; Instituto de Investigación La Paz (IdiPAZ), Madrid, Spain.
  • Pérez B; Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular-SO UAM-CSIC, Universidad Autónoma de Madrid, Campus de Cantoblanco, Madrid, Spain.
Genet Med ; 18(10): 1037-43, 2016 10.
Article in En | MEDLINE | ID: mdl-26913919

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Glycogen Storage Disease / Pathology, Molecular / Glycogen Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2016 Document type: Article Affiliation country: Country of publication:

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Glycogen Storage Disease / Pathology, Molecular / Glycogen Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2016 Document type: Article Affiliation country: Country of publication: