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7 p, 568.2 KB Paediatric Fabry disease : prognostic significance of ocular changes for disease severity / Kalkum, Gisela (Department of Paediatrics, Helios-Dr-Horst-Schmidt-Kliniken HSK, Ludwig-Erhard-Strasse 100, 65199 Wiesbaden, Germany) ; Pitz, Susanne (Department of Ophthalmology, University Medical Centre, Johannes Gutenberg University, Mainz, Germany) ; Karabul, Nesrin (Department of Neuropaediatrics and Inborn Metabolic Disorders (Metabolicum Ruhr), University Children's Hospital, Centre for Rare Diseases, Ruhr University Bochum, Bochum, Germany) ; Beck, Michael (Institute of Human Genetics, University Medical Centre, Johannes Gutenberg University, Mainz, Germany) ; Pintos-Morell, Guillem (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Parini, Rossella (Ospedale San Gerardo (Itàlia)) ; Rohrbach, Marianne (Division of Metabolism, University Children's Hospital, Children's Research Centre, Zurich, Switzerland) ; Bizjajeva, Svetlana (Shire, Zug, Switzerland) ; Ramaswami, Uma (Lysosomal Disorders Unit, Royal Free London Hospitals NHS Foundation Trust, London, UK) ; Universitat Autònoma de Barcelona
Ocular signs of Fabry disease can be seen in the first decade of life. We examined the occurrence of ocular signs in 232 paediatric patients in the Fabry Outcome Survey (FOS) international registry and looked for relationships between the presence of eye findings and disease severity as measured by the FOS Mainz severity score index (FOS-MSSI). [...]
2016 - 10.1186/s12886-016-0374-2
BMC ophthalmology, Vol. 16 (november 2016)  
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