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Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients.
Pavlu-Pereira, Hana; Silva, Maria João; Florindo, Cristina; Sequeira, Sílvia; Ferreira, Ana Cristina; Duarte, Sofia; Rodrigues, Ana Luísa; Janeiro, Patrícia; Oliveira, Anabela; Gomes, Daniel; Bandeira, Anabela; Martins, Esmeralda; Gomes, Roseli; Soares, Sérgia; Tavares de Almeida, Isabel; Vicente, João B; Rivera, Isabel.
Afiliación
  • Pavlu-Pereira H; Metabolism and Genetics Group, Research Institute for Medicines (iMed.ULisboa), Faculty of Pharmacy, Universidade de Lisboa, Av. Prof. Gama Pinto, 1649-003, Lisboa, Portugal.
  • Silva MJ; Metabolism and Genetics Group, Research Institute for Medicines (iMed.ULisboa), Faculty of Pharmacy, Universidade de Lisboa, Av. Prof. Gama Pinto, 1649-003, Lisboa, Portugal.
  • Florindo C; Department of Biochemistry and Human Biology, Faculty of Pharmacy, Universidade de Lisboa, Lisboa, Portugal.
  • Sequeira S; Metabolism and Genetics Group, Research Institute for Medicines (iMed.ULisboa), Faculty of Pharmacy, Universidade de Lisboa, Av. Prof. Gama Pinto, 1649-003, Lisboa, Portugal.
  • Ferreira AC; Department of Pediatrics, Hospital D. Estefânia, Lisbon, Portugal.
  • Duarte S; Department of Pediatrics, Hospital D. Estefânia, Lisbon, Portugal.
  • Rodrigues AL; Department of Pediatrics, Hospital D. Estefânia, Lisbon, Portugal.
  • Janeiro P; Department of Pediatrics, Hospital Santa Maria, Lisbon, Portugal.
  • Oliveira A; Department of Pediatrics, Hospital Santa Maria, Lisbon, Portugal.
  • Gomes D; Department of Medicine, Hospital Santa Maria, Lisbon, Portugal.
  • Bandeira A; Department of Medicine, Hospital Santa Maria, Lisbon, Portugal.
  • Martins E; Department of Pediatrics, Hospital Santo António, Porto, Portugal.
  • Gomes R; Department of Pediatrics, Hospital Santo António, Porto, Portugal.
  • Soares S; Department of Neuropediatrics, Hospital Pedro Hispano, Matosinhos, Portugal.
  • Tavares de Almeida I; Department of Neuropediatrics, Hospital Pedro Hispano, Matosinhos, Portugal.
  • Vicente JB; Metabolism and Genetics Group, Research Institute for Medicines (iMed.ULisboa), Faculty of Pharmacy, Universidade de Lisboa, Av. Prof. Gama Pinto, 1649-003, Lisboa, Portugal.
  • Rivera I; Department of Biochemistry and Human Biology, Faculty of Pharmacy, Universidade de Lisboa, Lisboa, Portugal.
Orphanet J Rare Dis ; 15(1): 298, 2020 10 22.
Article en En | MEDLINE | ID: mdl-33092611
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad por Deficiencia del Complejo Piruvato Deshidrogenasa Tipo de estudio: Risk_factors_studies Límite: Humans País/Región como asunto: Europa Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2020 Tipo del documento: Article País de afiliación: Portugal Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad por Deficiencia del Complejo Piruvato Deshidrogenasa Tipo de estudio: Risk_factors_studies Límite: Humans País/Región como asunto: Europa Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2020 Tipo del documento: Article País de afiliación: Portugal Pais de publicación: Reino Unido