Abstract:Mucopolysaccharidosis type IVA (Morquio syndrome) is a multisystemic autosomal recessive transitive disease induced by an N-acetylgalactosamine 6 sulfatase (GALNS) gene defect, progressing with lysosomal stock failure. The accumulation of chondroitin 6 sulfate and keratin sulfate is observed in the tissues due to GALNS deficiency. We presented a case in which Morquio syndrome was successfully treated with noninvasive mechanical ventilation in accordance with the literature. The case had obstructive sleep apnea… Show more
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