Mucopolysaccharidosis type VI: A predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in theARSBgene-Reference-Cited by-同舟云学术

Mucopolysaccharidosis type VI: A predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in theARSBgene

Published:2013-04-30 Issue:6 Volume:161 Page:1291-1299
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Jurecka Agnieszka,Zakharova Ekaterina¹,Cimbalistiene Loreta²,Gusina Nina³,Kulpanovich Anna³,Golda Adam⁴,Opoka-Winiarska Violetta⁵,Piotrowska Ewa⁶,Voskoboeva Elena¹,Tylki-Szymańska Anna⁷

Affiliation:

1. Department of Inherited Metabolic Diseases; Research Center for Medical Genetic; Moscow; Russian Federation

2. Center for Medical Genetics; Vilnius University Hospital Santariskiu Klinikos; Vilnius; Lithuania

3. Centre for Medical Genetic Services; Institute for Hereditary Diseases; Minsk; Belarus

4. Department of Cardiology; Gliwice General Hospital; Gliwice; Poland

5. Department of Paediatric Pulmonology and Rheumatology; Medical University of Lublin; Lublin; Poland

6. Department of Molecular Biology; University of Gdańsk; Gdańsk; Poland

7. Department of Metabolic Diseases; The Children's Memorial Health Institute; Warsaw; Poland

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35905/fullpdf

Reference28 articles.

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2. Mucopolysaccharidosis: Cardiologic features and effects of enzyme-replacement therapy in 24 children with MPS I, II and VI;Brands;J Inherit Metab Dis,2012

3. Cardiac findings after enzyme replacement therapy for mucopolysaccharidosis type I;Braunlin;Am J Cardiol,2006

4. Cardiac disease in patients with mucopolysaccharidosis: Presentation, diagnosis and management;Braunlin;J Inherit Metab Dis,2011

5. Enzyme replacement therapy for mucopolysaccharidosis VI: Long-term cardiac effects of galsulfase (Naglazyme((R))) therapy;Braunlin;J Inherit Metab Dis.,2012

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