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Home > West Medicine > Internal Medicine > Endocrinology

Classroom classification

百科

Mucopolysaccharidosis

内分泌科

Common symptoms

唇厚舌大、脊柱后突、肝脾肿大、眼睑浮肿、眼球突出、头大畸形、角膜混浊、鼻孔朝天或鼻孔前倾

The pathology of disease

Mucopolysaccharidosis is lysosomal storage; coarse face; skeletal dysplasia; organomegaly; developmental delay; children; AR; children; enzyme replacement; transplant; pediatric metabolic/genetics.

Symptoms

Coarse face; skeletal dysplasia; organomegaly; developmental delay; child; AR; ERT/transplant

Causes

Lysosomal enzyme deficiency; AR; MPS; child.

Treatment

Enzyme replacement; hematopoietic transplant; supportive; pediatric metabolic/genetics; early

Dept

Pediatric metabolic / medical genetics / pediatrics.

Warm reminder: Health education reference only; seek care at regular hospital.

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内分泌科Overview of the Western Medical Room