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Real-world evidence in achondroplasia: considerations for a standardized data set.
Alanay, Yasemin; Mohnike, Klaus; Nilsson, Ola; Alves, Inês; AlSayed, Moeenaldeen; Appelman-Dijkstra, Natasha M; Baujat, Genevieve; Ben-Omran, Tawfeg; Breyer, Sandra; Cormier-Daire, Valerie; Gregersen, Pernille Axél; Guillén-Navarro, Encarna; Högler, Wolfgang; Maghnie, Mohamad; Mukherjee, Swati; Cohen, Shelda; Pimenta, Jeanne; Selicorni, Angelo; Semler, J Oliver; Sigaudy, Sabine; Popkov, Dmitry; Sabir, Ian; Noval, Susana; Sessa, Marco; Irving, Melita.
Afiliação
  • Alanay Y; Pediatric Genetics, Department of Pediatrics, School of Medicine, Acibadem Mehmet Ali Aydinlar University, Kayisdagi Cad. No:32, Atasehir, 34684, Istanbul, Turkey. yasemin.alanay@acibadem.edu.tr.
  • Mohnike K; Department of Pediatrics, Otto-von-Guericke-University, Magdeburg, Germany.
  • Nilsson O; Division of Pediatric Endocrinology and Center for Molecular Medicine, Department of Women's and Children's Health, Karolinska Institute and University Hospital, Stockholm, Sweden.
  • Alves I; Department of Medical Sciences, Örebro University, Örebro, Sweden.
  • AlSayed M; Department of Pediatrics, Örebro University Hospital, Örebro, Sweden.
  • Appelman-Dijkstra NM; ANDO Portugal, Évora, Portugal.
  • Baujat G; Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Ben-Omran T; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
  • Breyer S; Department of Internal Medicine, Division Endocrinology and Center for Bone Quality, Leiden University Medical Center, Leiden, The Netherlands.
  • Cormier-Daire V; Hôpital Necker Enfants Malades AP-HP, Paris, France.
  • Gregersen PA; Genetic and Genomic Medicine Division, Sidra Medicine and Hamad Medical Corporation, Doha, Qatar.
  • Guillén-Navarro E; Department of Paediatrics, UKE Hamburg-Eppendorf, Hamburg, Germany.
  • Högler W; Hôpital Necker Enfants Malades AP-HP, Paris, France.
  • Maghnie M; Reference Center for Skeletal Dysplasia, Imagine Institute, Paris Cité University, Paris, France.
  • Mukherjee S; Department of Clinical Genetics and Centre for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark.
  • Cohen S; Medical Genetics Section, Department of Paediatrics, Virgen de la Arrixaca University Clinical Hospital, IMIB-Arrixaca, Faculty of Medicine, University of Murcia (UMU), Murcia, Spain.
  • Pimenta J; Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Linz, Austria.
  • Selicorni A; Department of Paediatrics, IRCCS Istituto Giannna Gaslini, Genoa, Italy.
  • Semler JO; Department of Neuroscience, Rehabilitation, Ophthalmology Genetics, Maternal and Child-Health, University of Genova, Genoa, Italy.
  • Sigaudy S; BioMarin (UK) Limited, London, UK.
  • Popkov D; BioMarin (UK) Limited, London, UK.
  • Sabir I; BioMarin (UK) Limited, London, UK.
  • Noval S; Pediatric Unit ASST Lariana, Mariani Center for Fragile Child, Como, Italy.
  • Sessa M; Faculty of Medicine, University of Cologne, Cologne, Germany.
  • Irving M; Department of Pediatrics, University Hospital Cologne, Cologne, Germany.
Orphanet J Rare Dis ; 18(1): 166, 2023 06 26.
Article em En | MEDLINE | ID: mdl-37365619
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Qualidade de Vida / Acondroplasia Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Qualidade de Vida / Acondroplasia Idioma: En Ano de publicação: 2023 Tipo de documento: Article