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Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center.
Barbosa-Gouveia, Sofia; Vázquez-Mosquera, María E; González-Vioque, Emiliano; Álvarez, José V; Chans, Roi; Laranjeira, Francisco; Martins, Esmeralda; Ferreira, Ana Cristina; Avila-Alvarez, Alejandro; Couce, María L.
Afiliação
  • Barbosa-Gouveia S; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Paediatrics, IDIS-Health Research Institute of Santiago de Compostela, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), European Reference Network for Hereditary Metabolic Disorders (MetabERN), S
  • Vázquez-Mosquera ME; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Paediatrics, IDIS-Health Research Institute of Santiago de Compostela, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), European Reference Network for Hereditary Metabolic Disorders (MetabERN), S
  • González-Vioque E; Department of Clinical Biochemistry, Puerta de Hierro-Majadahonda University Hospital, 28222 Majadahonda, Spain.
  • Álvarez JV; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Paediatrics, IDIS-Health Research Institute of Santiago de Compostela, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), European Reference Network for Hereditary Metabolic Disorders (MetabERN), S
  • Chans R; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Paediatrics, IDIS-Health Research Institute of Santiago de Compostela, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), European Reference Network for Hereditary Metabolic Disorders (MetabERN), S
  • Laranjeira F; Biochemical Genetics Unit, Centro de Genética Médica Doutor Jacinto Magalhães, 4050-466 Porto, Portugal.
  • Martins E; Centro Materno-Infantil do Norte, Centro Hospitalar Universitário do Porto (CHUP), Coordinator of the Centro de Referência de Doenças Hereditárias do Metabolismo do CHUP, 4050-466 Porto, Portugal.
  • Ferreira AC; Hospital D. Estefânia, Centro Hospitalar de Lisboa Central (CHLC), Coordinator of the Centro de Referência de Doenças Hereditárias do Metabolismo do CHLC, 1169-050 Lisboa, Portugal.
  • Avila-Alvarez A; Neonatology Unit, Pediatrics Department, Complexo Hospitalario Universitario de A Coruña, SERGAS, 15006 A Coruña, Spain.
  • Couce ML; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Paediatrics, IDIS-Health Research Institute of Santiago de Compostela, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), European Reference Network for Hereditary Metabolic Disorders (MetabERN), S
Genes (Basel) ; 12(8)2021 08 19.
Article em En | MEDLINE | ID: mdl-34440436
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Mitocondriais / Hiperglicemia / Hipoglicemia / Erros Inatos do Metabolismo Tipo de estudo: Diagnostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Genes (Basel) Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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XML
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Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Mitocondriais / Hiperglicemia / Hipoglicemia / Erros Inatos do Metabolismo Tipo de estudo: Diagnostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Genes (Basel) Ano de publicação: 2021 Tipo de documento: Article