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Revista de la Asociación Colombiana de Dermatología y Cirugía Dermatológica
Article . 2005
Data sources: DOAJ
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Xantomatosis cerebrotendinosa

descriptionPublicationkeyboard_double_arrow_right Article 01 Oct 2005 English Publisher:Asociación Colombiana de Dermatología y Cirugía DermatológicaJournal:Revista de la Asociación Colombiana de Dermatología y Cirugía Dermatológica (issn: 1657-0448, Copyright policy )
Authors: Andrea Vargas; Luis Alfonso Gómez; Fernando Vallejo;

Xantomatosis cerebrotendinosa

Abstract

Presentamos un paciente de cuarenta y dos años de edad con síndrome convulsivo, cataratas, retardo mental, paraparesia espástica de miembros inferiores, xantomas tendinosos, consanguinidad en sus padres, y hermanos con alteraciones similares. Su perfil lipídico era normal, atrofia cerebelosa y biopsia con diagnóstico de xantomas, con lo cual se hace diagnóstico de una xantomatosis cerebrotendinosa.

Keywords

RL1-803, xantomas tendinosos, Dermatology, xantomatosis cerebrotendinosa

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
0
Average
Average
Average
gold