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鼻梁低、智能障碍、脆性X综合征、肝脾肿大、耳聋、截瘫、角膜混浊、心脏增大、颈短
Mucopolysaccharidosis is lysosomal glycosaminoglycan storage; coarse facies; hepatosplenomegaly; developmental delay; children; types I-VII; supportive; enzyme replacement selected; pediatric metabolic/genetics.
Coarse facies; hepatosplenomegaly; developmental delay; child; GAG; types
GAG lysosomal enzyme defect; AR; MPS; child.
Enzyme replacement selected; supportive; bone marrow transplant selected; pediatric metabolic/genetics
Pediatrics / metabolic / medical genetics / pediatric orthopedics.
Warm reminder: Health education reference only; seek care at regular hospital.
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