Article
Natural history of the oldest known females with mucopolysaccharidosis type IVA (Morquio A syndrome).
American journal of medical genetics. Part A - 1 Jun 2020
Peretz Ryan H, Flora Christina H, Adams Darius J
Abstract excerpt
Mucopolysaccharidosis Type IVA (MPS IVA), also known as Morquio A syndrome, is an autosomal recessive lysosomal storage disorder that results from variants in the GALNS gene that encodes the enzyme galactosamine-6-sulfate sulfatase. This syndrome has systemic manifestations including, but not limited to, musculoskeletal, respiratory, cardiovascular, rheumatologic, neurologic, dental, ophthalmologic, and otologic....
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