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Genotypic‐phenotypic features and enzyme replacement therapy outcome in patients with mucopolysaccharidosis VI from Turkey
Authors:Mustafa Kılıç  Ali Dursun  Turgay Coşkun  Ayşegül Tokatlı  Rıza K. Özgül  Didem Yücel‐Yılmaz  Mehmet Karaca  Deniz Doğru  Dursun Alehan  Sibel Kadayıfçılar  Aydan Genç  Handan Turan‐Dizdar  Burhanettin Gönüldaş  Sema Savcı  Melda Sağlam  Cemalettin Aksoy  Umut Arslan  Hatice‐Serap Sivri
Affiliation:1. Sami Ulus Children Hospital, Division of Metabolism, Ankara, Turkey;2. Hacettepe University Children Hospital, Division of Metabolism, Ankara, Turkey;3. Faculty of Science and Arts, Department of Biology, Aksaray University, Aksaray, Turkey;4. Hacettepe University Children Hospital, Division of Pediatric Pulmonology, Ankara, Turkey;5. Hacettepe University Children Hospital, Division of Pediatric Cardiology, Ankara, Turkey;6. Faculty of Medicine, Department of Ophthalmology, Hacettepe University, Ankara, Turkey;7. Faculty of Medicine, Department of Ear Nose Throat, Division of Audiology, Hacettepe University, Ankara, Turkey;8. Faculty of Medicine, Department of Ear Nose Throat, Hacettepe University, Ankara, Turkey;9. Faculty of Health Sciences, Department of Physiotheraphy and Rehabilitation, Hacettepe University, Ankara, Turkey;10. Faculty of Medicine, Department of Orthopaedics and Traumatology, Hacettepe University, Ankara, Turkey;11. Faculty of Medicine, Department of Biostatistics, Hacettepe University, Ankara, Turkey
Abstract:
Keywords:enzyme replacement therapy  genotype  mucopolysaccharidosis type VI  outcome
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