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Neuropediatrics 1979; 10(4): 321-331
DOI: 10.1055/s-0028-1085335
DOI: 10.1055/s-0028-1085335
Original article
© 1979 by Thieme Medical Publishers, Inc.
Mucolipidosis IV
Weitere Informationen
Publikationsverlauf
1978
1979
Publikationsdatum:
18. November 2008 (online)
Abstract
Five new cases of Mucolipidosis IV are related and the seven cases in the literature reviewed. Neurological signs of the disorder and the value of skin and conjunctival biopsies for its diagnosis are emphasized. Arguments in favour of a recessive autosomic inheritance are brought forth. The disease does not affect exclusively Jewish people. In two cases absence of oligo-sacchariduria was demonstrated.
Keyword
Mucolipidosis - corneal clouding - progressive encephalopathy