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mucopolysaccharidosis III

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mucopolysaccharidosis III
Sanfilippo syndrome An AR condition characterized by α-N-acetyl-a-D-glucosaminidase deficiency, ↑ heparan sulfate excretion in urine Clinical Relatively late onset, coarse facies, slow mental development progressing to severe mental retardation, stiff joints, gait disturbances, speech defects, behavioral problems, survival into the twenties or later


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Mucopolysaccharidosis type IV-B
 
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