Natural history of Morquio A patient with tracheal obstruction from birth to death
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DOI: 10.1016/j.ymgmr.2017.11.005
Abstract: Morquio A syndrome (mucopolysaccharidosis IVA, MPS IVA) is a lysosomal storage disease caused by a deficiency of N-acetylgalactosamine-6-sulfate sulfatase, resulting in systemic accumulation of the partially degraded glycosaminoglycans (GAGs), keratan sulfate and chondroitin-6-sulfate. The accumulation… read more here.
Keywords: mps iva; obstruction; history morquio; tracheal obstruction ... See more keywords