Paediatric Fabry disease: prognostic significance of ocular changes for disease severity.

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作者： Gisela,Kalkum ^[1] ; Susanne,Pitz ^[2] ; Nesrin,Karabul ^[3] ; Michael,Beck ^[4] ; Guillem,Pintos-Morell ^[5] ; Rossella,Parini ^[6] ; Marianne,Rohrbach ^[7] ; Svetlana,Bizjajeva ^[8] ; Uma,Ramaswami ^[9]

作者单位： Department of Paediatrics, Helios-Dr-Horst-Schmidt-Kliniken HSK, Ludwig-Erhard-Strasse 100, 65199, Wiesbaden, Germany. g.kalkum@web.de. ^[1] Department of Ophthalmology, University Medical Centre, Johannes Gutenberg University, Mainz, Germany. ^[2] Department of Neuropaediatrics and Inborn Metabolic Disorders (Metabolicum Ruhr), University Children's Hospital, Centre for Rare Diseases, Ruhr University Bochum, Bochum, Germany. ^[3] Institute of Human Genetics, University Medical Centre, Johannes Gutenberg University, Mainz, Germany. ^[4] Department of Paediatrics, Germans Trias i Pujol University Hospital, and Research Institute IGTP, Badalona, Universitat Autònoma de Barcelona, Barcelona, Spain. ^[5] Rare Metabolic Diseases Unit, Fondazione MBBM, San Gerardo Hospital, Monza, Italy. ^[6] Division of Metabolism, University Children's Hospital, Children's Research Centre, Zurich, Switzerland. ^[7] Shire, Zug, Switzerland. ^[8] Lysosomal Disorders Unit, Royal Free London Hospitals NHS Foundation Trust, London, UK. ^[9]

关键词 Agalsidase alfa Children Fabry Outcome Survey Fabry disease Ocular signs