Early Diagnosis and Results of Enzyme Replacement Therapy in the Patient with Mucopolysaccharidosis Type VI: Clinical Case
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...
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"Paediatrician" Publishers LLC,
2021-12-01T00:00:00Z.
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