单词 | mucopolysaccharidosis is |
释义 | mucopolysaccharidosis ISmucopolysaccharidosis ISScheie's disease An AR mucopolysaccharidosis which, like Hurler syndrome, is characterized by a defect of α-l-iduronidase and excretion of ↑ dermatan sulfate in urine Clinical MPS-IS is the mildest form mucopolysaccharidosis; onset at age 4–5, including inguinal hernia, broad mouth with full lips, early onset corneal clouding, early onset of stiff joints, claw hands and deformed feet, aortic valve defectsmucopolysaccharidosis IS |
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