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Cerebrotendinous xanthomatosis without tendon xanthomas mimicking Marinesco-Sjoegren syndrome: a case report.

A 39 year old patient with cerebellar signs, juvenile cataracts, and dull normal intelligence had cerebrotendinous xanthomatosis without tendon xanthomas, diagnosed previously as Marinesco-Sjoegren syndrome. Cerebrotendinous xanthomatosis was proved by a greatly increased excretion of bile alcohols...

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Detalhes bibliográficos
Main Authors: Siebner, H R, Berndt, S, Conrad, B
Formato: Artigo
Idioma:Inglês
Publicado em: 1996
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC486377/
https://ncbi.nlm.nih.gov/pubmed/8778269
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