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Mucopolysaccharidose de type IV
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Définition:
Genetic disorder of mucopolysaccharide metabolism characterized by skeletal abnormalities, joint instability, development of cervical myelopathy, and excessive urinary keratan sulfate. There are two biochemically distinct forms, each due to a deficiency of a different enzyme.
Synonyme(s):
Maladie de Morquio /
Mucopolysaccharidose de Morquio /
Mucopolysaccharidose de type 4 /
Ostéochondrodysplasie type Morquio /
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(NLM)®
de l'INSERM (version française)
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