Genotypic-phenotypic features and enzyme replacement therapy outcome in patients with mucopolysaccharidosis VI from Turkey-Reference-Cited by-同舟云学术

Genotypic-phenotypic features and enzyme replacement therapy outcome in patients with mucopolysaccharidosis VI from Turkey

Published:2017-09-08 Issue:11 Volume:173 Page:2954-2967
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Kılıç Mustafa¹^ORCID,Dursun Ali²,Coşkun Turgay²,Tokatlı Ayşegül²,Özgül Rıza K.²,Yücel-Yılmaz Didem²,Karaca Mehmet³,Doğru Deniz⁴,Alehan Dursun⁵,Kadayıfçılar Sibel⁶,Genç Aydan⁷,Turan-Dizdar Handan⁷,Gönüldaş Burhanettin⁸,Savcı Sema⁹,Sağlam Melda⁹,Aksoy Cemalettin¹⁰,Arslan Umut¹¹,Sivri Hatice-Serap²

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

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference45 articles.

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2. Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI;Azevedo;Clinical Genetics,2004

3. Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase;Brands;Orphanet Journal of Rare Diseases,2013

4. Up to five years’ experience with 11 mucopolysaccharidosis type VI patients;Brands;Molecular Genetics and Metabolism,2013

5. Enzyme replacement therapy for mucopolysaccharidosis VI: Long-term cardiac effects of galsulfase (Naglazyme(R)) therapy;Braunlin;Journal of Inherited Metabolic Disease,2013

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