Article
Mucopolysaccharidosis type VI: a predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in the ARSB gene.
American journal of medical genetics. Part A - 1 Jun 2013
Jurecka Agnieszka, Zakharova Ekaterina, Cimbalistiene Loreta, Gusina Nina, Kulpanovich Anna, Golda Adam, Opoka-Winiarska Violetta, Piotrowska Ewa, Voskoboeva Elena, Tylki-Szymańska Anna
Abstract excerpt
Mucopolysaccharidosis type VI (MPS VI) is a rare lysosomal, autosomal recessive storage disorder caused by deficient activity of N-acetylgalactosamine-4-sulfatase (ARSB). Approximately, 140 ARSB gene mutations have been identified; however, most are private mutations making genotype-phenotype correlation for most MPS VI patients difficult. The aim of this study was to describe the natural clinical course in...
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