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Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria.
Aldámiz-Echevarría, Luis; Llarena, Marta; Bueno, María A; Dalmau, Jaime; Vitoria, Isidro; Fernández-Marmiesse, Ana; Andrade, Fernando; Blasco, Javier; Alcalde, Carlos; Gil, David; García, María C; González-Lamuño, Domingo; Ruiz, Mónica; Ruiz, María A; Peña-Quintana, Luis; González, David; Sánchez-Valverde, Felix; Desviat, Lourdes R; Pérez, Belen; Couce, María L.
Afiliação
  • Aldámiz-Echevarría L; Unit of Metabolism, Cruces University Hospital, BioCruces Health Research Institute, GCV-CIBER de Enfermedades Raras (CIBERER), Plaza de Cruces s/n, Barakaldo, Spain.
  • Llarena M; Unit of Metabolism, Cruces University Hospital, BioCruces Health Research Institute, GCV-CIBER de Enfermedades Raras (CIBERER), Plaza de Cruces s/n, Barakaldo, Spain.
  • Bueno MA; Metabolic Disorders, Dietetics and Nutrition Unit, Virgen del Rocío University Hospital, Manuel Siurot Avenue s/n, Sevilla, Spain.
  • Dalmau J; Nutrition and Metabolopathologies Unit, La Fe University Hospital, Bulevar Sur s/n, Valencia, Spain.
  • Vitoria I; Nutrition and Metabolopathologies Unit, La Fe University Hospital, Bulevar Sur s/n, Valencia, Spain.
  • Fernández-Marmiesse A; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Pediatrics, Hospital Clínico Universitario de Santiago de Compostela, CIBERER, Health Research Institute of Santiago de Compostela (IDIS), A Choupana, s/n, Santiago de Compostela, A Coruña, Spain.
  • Andrade F; Unit of Metabolism, Cruces University Hospital, BioCruces Health Research Institute, GCV-CIBER de Enfermedades Raras (CIBERER), Plaza de Cruces s/n, Barakaldo, Spain.
  • Blasco J; Gastroenterology, Hepatology and Child Nutrition Unit, Carlos Haya University Hospital, Avda. Arroyo de los Ángeles s/n, Málaga, Spain.
  • Alcalde C; Paediatrics Unit, Río Hortega University Hospital, Valladolid, Spain.
  • Gil D; Gastroenterology Unit, Virgen de la Arrixaca University Hospital, Ctra. Madrid-Cartagena s/n, El Palmar, Murcia, Spain.
  • García MC; Metabolic Pathologies Unit, Miguel Servet University Hospital, Zaragoza, Spain.
  • González-Lamuño D; Nephrology and Metabolism Unit, Marqués de Valdecilla University Hospital, Santander, Spain.
  • Ruiz M; Paediatrics Unit, Nuestra Señora de la Candelaria University Hospital, Santa Cruz de Tenerife, Spain.
  • Ruiz MA; Metabolic Pathologies and Neuropaediatrics Unit, Son Espases University Hospital, Palma de Mallorca, Spain.
  • Peña-Quintana L; Paediatric Gastroenterology, Hepatology and Nutrition Unit, Mother and Child Hospital Complex, Avda. Marítima del Sur s/n, Las Palmas de Gran Canaria, Spain.
  • González D; Metabolic Pathologies Unit, Maternal and Child Hospital, Badajoz, Spain.
  • Sánchez-Valverde F; Gastroenterology and Paediatric Nutrition Unit, Virgen del Camino Hospital, Pamplona, Spain.
  • Desviat LR; Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular Severo Ochoa CSIC-UAM, CIBERER, IdiPaz, Madrid, Spain.
  • Pérez B; Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular Severo Ochoa CSIC-UAM, CIBERER, IdiPaz, Madrid, Spain.
  • Couce ML; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Pediatrics, Hospital Clínico Universitario de Santiago de Compostela, CIBERER, Health Research Institute of Santiago de Compostela (IDIS), A Choupana, s/n, Santiago de Compostela, A Coruña, Spain.
J Hum Genet ; 61(8): 731-44, 2016 Aug.
Article em En | MEDLINE | ID: mdl-27121329
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Fenilalanina Hidroxilase / Fenilcetonúrias / Estudos de Associação Genética / Genótipo / Mutação Tipo de estudo: Clinical_trials / Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Humans País como assunto: Europa Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Fenilalanina Hidroxilase / Fenilcetonúrias / Estudos de Associação Genética / Genótipo / Mutação Tipo de estudo: Clinical_trials / Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Humans País como assunto: Europa Idioma: En Ano de publicação: 2016 Tipo de documento: Article