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Mukopolysaccharidose Typ IV
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Beschreibung:
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.
Synonym(s):
Ekzentro-Osteochondrodysplasie /
Morquio-Krankheit /
EKZENTRO OSTEOCHONDRODYSPLASIE /
Mukopolysaccharidose Typ IV A /
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(NLM)®
(DIMDI - Deutsche Fassung)
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