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Genotype and residual enzyme activity in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: Are predictions possible?
Tucci, Sara; Wagner, Christine; Grünert, Sarah C; Matysiak, Uta; Weinhold, Natalie; Klein, Jeannette; Porta, Francesco; Spada, Marco; Bordugo, Andrea; Rodella, Giulia; Furlan, Francesca; Sajeva, Anna; Menni, Francesca; Spiekerkoetter, Ute.
Afiliación
  • Tucci S; Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany.
  • Wagner C; Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany.
  • Grünert SC; Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany.
  • Matysiak U; Pediatric Genetics, Center for Pediatrics and Adolescent Medicine, Medical Centre - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Weinhold N; Charité-Universitätsmedizin Berlin, Corporate Member of Free University Berlin, Free University of Berlin, Humboldt University of Berlin, and Berlin Institute of Health, Center for Chronically Sick Children, Berlin, Germany.
  • Klein J; Newborn Screening Laboratory, Otto-Heubner-Center for Pediatrics and Adolescent Medicine, Charité-Universitätsmedizin Berlin, Berlin, Germany.
  • Porta F; Department of Pediatrics, AOU Città della Salute e della Scienza di Torino, University of Torino, Turin, Italy.
  • Spada M; Department of Pediatrics, AOU Città della Salute e della Scienza di Torino, University of Torino, Turin, Italy.
  • Bordugo A; Department of Mother and Child, Pediatric Clinic, University Hospital of Verona, Verona, Italy.
  • Rodella G; Inherited Metabolic Diseases Unit, Department of Paediatrics, Regional Centre for Newborn Screening, Diagnosis and Treatment of Inherited Metabolic Diseases and Congenital Endocrine Diseases, Azienda Ospedaliera Universitaria Integrata, Verona, Italy.
  • Furlan F; Department of Mother and Child, Pediatric Clinic, University Hospital of Verona, Verona, Italy.
  • Sajeva A; Inherited Metabolic Diseases Unit, Department of Paediatrics, Regional Centre for Newborn Screening, Diagnosis and Treatment of Inherited Metabolic Diseases and Congenital Endocrine Diseases, Azienda Ospedaliera Universitaria Integrata, Verona, Italy.
  • Menni F; Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy.
  • Spiekerkoetter U; Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy.
J Inherit Metab Dis ; 44(4): 916-925, 2021 07.
Article en En | MEDLINE | ID: mdl-33580884
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Pruebas Genéticas / Acil-CoA Deshidrogenasa / Errores Innatos del Metabolismo Lipídico Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Humans / Newborn Idioma: En Revista: J Inherit Metab Dis Año: 2021 Tipo del documento: Article País de afiliación: Alemania
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Pruebas Genéticas / Acil-CoA Deshidrogenasa / Errores Innatos del Metabolismo Lipídico Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Humans / Newborn Idioma: En Revista: J Inherit Metab Dis Año: 2021 Tipo del documento: Article País de afiliación: Alemania