International guidelines for the management and treatment of Morquio A syndrome |
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| Authors: | Christian J Hendriksz Kenneth I Berger Roberto Giugliani Paul Harmatz Christoph Kampmann William G Mackenzie Julian Raiman Martha Solano Villarreal Ravi Savarirayan |
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| Institution: | 1. Salford Royal NHS Foundation Trust, Salford, UK;2. New York University School of MedicineNew York;3. Department of Genetics/UFRGS and INAGEMP, Medical Genetics Service/HCPA, Porto Alegrw, RS, Brazil;4. University of California San Francisco Benioff Children's Hospital Oakland, Oakland, California;5. University Children's Hospital, Mainz, Germany;6. Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware;7. Hospital for Sick Children, Toronto, Ontario, Canada;8. Fundacion Cardioinfantil, Bogotá, C/marca, Colombia;9. Murdoch Childrens Research Institute and University of Melbourne, Parkville, Victoria, Australia |
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| Abstract: | Morquio A syndrome (mucopolysaccharidosis IVA) is a lysosomal storage disorder associated with skeletal and joint abnormalities and significant non‐skeletal manifestations including respiratory disease, spinal cord compression, cardiac disease, impaired vision, hearing loss, and dental problems. The clinical presentation, onset, severity and progression rate of clinical manifestations of Morquio A syndrome vary widely between patients. Because of the heterogeneous and progressive nature of the disease, the management of patients with Morquio A syndrome is challenging and requires a multidisciplinary approach, involving an array of specialists. The current paper presents international guidelines for the evaluation, treatment and symptom‐based management of Morquio A syndrome. These guidelines were developed during two expert meetings by an international panel of specialists in pediatrics, genetics, orthopedics, pulmonology, cardiology, and anesthesia with extensive experience in managing Morquio A syndrome. © 2014 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals, Inc. |
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| Keywords: | mucopolysaccharidosis IV guidelines symptom assessment diagnosis disease management |
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