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Mucopolysaccharidose de type III
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Définition:
Mucopolysaccharidosis characterized by heparitin sulfate in the urine, progressive mental retardation, mild dwarfism, and other skeletal disorders. There are four clinically indistinguishable but biochemically distinct forms, each due to a deficiency of a different enzyme.
Synonyme(s):
Maladie de Sanfilippo /
Mucopolysaccharidose de San Filipo /
Mucopolysaccharidose de Sanfilippo /
Mucopolysaccharidose de type 3 /
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(NLM)®
de l'INSERM (version française)
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