August + September

Hi everyone! Sorry about missing August, it was a busy month with starting fellowship and moving. If anyone here has questions about metabolic fellowship I will happily answer them :)

Long-term enzyme replacement therapy: Findings from the mucopolysaccharidosis VI clinical surveillance program after 15 years follow-up

Mucopolysaccharidosis (MPS) VI, or Maroteaux–Lamy syndrome is a lysosomal storage disease caused by deficient N-acetylgalactosamine-4-sulfatase or arylsulfatase B. Affected individuals usually present with coarse facial features, normal intelligence, short stature, musculoskeletal abnormalities, poor endurance, compromised respiratory and cardiac function, spinal cord compression, impaired vision, hearing loss, and hepatosplenomegaly....

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