Mucopolysaccharidosis: A rare case from ophthalmology perspective by Santosh Singh Patel, Rajesh Kumar Sahu, Reshu Malhotra, Anju Bhaskar, A. K. Chandrakar

Subjects: Get full text

Detection of inversion with breakpoints in ARSB causing MPS VI by whole-genome sequencing: lessons learned and best practices by Yufeng Huang, Wenyue Deng, Hui Huang, Xiankai Zhang, Xiaohong Chen, Jian Ye, Sukun Luo, Ting Yu, Hui Yao, Hao Du, Xuelian He

Subjects: “…mucopolysaccharidosis type VI…”
Get full text

Parental perception of treatment options for mucopolysaccharidosis: a survey to bridge the gap for personalized medicine by Anna-Maria Wiesinger, Florian B. Lagler

Subjects: “…Mucopolysaccharidosis…”
Get full text

Prenatal diagnosis of mucopolysaccharidosis type I on hepatosplenomegaly and coarse features: a case-report by Maxime Agranier, Florence Demurger, Christele Dubourg, Jerome Fromageot, Anne-Sophie Cabaret Dufour, Erika Launay, Magalie Gournay, Charles Lefèvre, Roseline Froissart, Magali Pettazzoni, Paul Rollier

Subjects: “…Mucopolysaccharidosis I…”
Get full text