Mucopolysaccharidosis type VI: A predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in the ARSB gene期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

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

Authors:	Agnieszka Jurecka Ekaterina Zakharova Loreta Cimbalistiene Nina Gusina Anna Kulpanovich Adam Golda Violetta Opoka‐Winiarska Ewa Piotrowska Elena Voskoboeva Anna Tylki‐Szymańska

Affiliation:	1. Department of Molecular Biology, University of Gdańsk, , Gdańsk, Poland;2. Department of Metabolic Diseases, The Children's Memorial Health Institute, , Warsaw, Poland;3. Department of Inherited Metabolic Diseases, Research Center for Medical Genetic, , Moscow, Russian Federation;4. Center for Medical Genetics, Vilnius University Hospital Santariskiu Klinikos, , Vilnius, Lithuania;5. Centre for Medical Genetic Services, Institute for Hereditary Diseases, , Minsk, Belarus;6. Department of Cardiology, Gliwice General Hospital, , Gliwice, Poland;7. Department of Paediatric Pulmonology and Rheumatology, Medical University of Lublin, , Lublin, Poland

Abstract:

Keywords:	maroteaux‐lamy syndrome attenuated phenotype genotype– phenotype analysis cardiac variant cardiac valve disease