Early Diagnosis and Results of Enzyme Replacement Therapy in the Patient with Mucopolysaccharidosis Type VI: Clinical Case

• Main Authors: Dmitry V. Ivanov (Author), Anna I. Ostrun (Author), Vladimir M. Kenis (Author), Tatiana V. Markova (Author), Ekaterina Yu. Zakharova (Author)
• Format: Book
• Published: "Paediatrician" Publishers LLC, 2021-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Background. Mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome) is rare autosomal-recessive multisystem disease, one of the group of lysosomal storage diseases. The MPS VI pathogenesis is determined by arylsulfatase B enzyme deficiency caused by mutations in the ARSB gene. There are only...