Your browser doesn't support javascript.
loading
A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C).
Pineda, Mercedes; Mengel, Eugen; Jahnová, Helena; Héron, Bénédicte; Imrie, Jackie; Lourenço, Charles M; van der Linden, Vanessa; Karimzadeh, Parvaneh; Valayannopoulos, Vassili; Jesina, Pavel; Torres, Juan V; Kolb, Stefan A.
Afiliación
  • Pineda M; Fundació, Hospital Sant Joan de Déu, Centre for Biomedical Research on Rare Diseases, CIBERER, Instituto de Salud Carlos III, Barcelona, Spain. pineda@hsjdbcn.org.
  • Mengel E; Hospital Sant Joan de Deu, Passeig de Sant Joan de Deu n°2, Esplugues de Llobregat, Barcelona, 08950, Spain. pineda@hsjdbcn.org.
  • Jahnová H; Villa Metabolica, Center for Pediatric and Adolescent Medicine, MC University of Mainz, Mainz, Germany.
  • Héron B; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
  • Imrie J; Centre de Référence des Maladies Lysosomales (CRML), Neuropédiatrie, CHU Trousseau, APHP, Paris, France.
  • Lourenço CM; Committee for the Evaluation of Treatment for Niemann-Pick diseases (CETNP), Paris, France.
  • van der Linden V; Niemann-Pick UK, Vermont House, Tyne and Wear, Washington, UK.
  • Karimzadeh P; Medical Genetics Service, Clinics Hospital of Ribeirão Preto, University of São Paulo, São Paulo, Brazil.
  • Valayannopoulos V; Association of Assistance to Deficient Children of Pernambuco, Barão de Lucena Hospital, Recife, PE, Brazil.
  • Jesina P; Department of Paediatric Neurology, Paediatric Neurology Research Centre, Shahid Beheshti University of Medical Sciences, Mofid Children Hospital, Tehran, Iran.
  • Torres JV; Committee for the Evaluation of Treatment for Niemann-Pick diseases (CETNP), Paris, France.
  • Kolb SA; Centre Référence des Maladies Héréditaires du Métabolisme de l'Enfant et de l'Adulte (MaMEA), Necker-Enfants Malades and IMAGINE Institute, APHP, Paris, France.
BMC Pediatr ; 16: 107, 2016 07 22.
Article en En | MEDLINE | ID: mdl-27449637
Asunto(s)
Palabras clave
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Indicadores de Salud / Técnicas de Apoyo para la Decisión / Enfermedad de Niemann-Pick Tipo C Tipo de estudio: Diagnostic_studies / Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Límite: Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: BMC Pediatr Asunto de la revista: PEDIATRIA Año: 2016 Tipo del documento: Article País de afiliación: España
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Indicadores de Salud / Técnicas de Apoyo para la Decisión / Enfermedad de Niemann-Pick Tipo C Tipo de estudio: Diagnostic_studies / Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Límite: Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: BMC Pediatr Asunto de la revista: PEDIATRIA Año: 2016 Tipo del documento: Article País de afiliación: España