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Revista Española de Casos Clínicos en Medicina Interna
Article . 2024 . Peer-reviewed
License: CC BY NC ND
Data sources: Crossref
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Leucoencefalopatía con sustancia blanca evanescente: un fenotipo intermedio en relación a una mutación heterocigota en EIF2B2

descriptionPublicationkeyboard_double_arrow_right Article 26 Dec 2024Publisher:Sociedad Espanola de Medicina Interna (SEMI)Journal:Revista Española de Casos Clínicos en Medicina Interna, volume 9, pages 134-136 (eissn: 2530-0792, Copyright policy )
Authors: Belén Quintanilla-Carrillo; Roberto Pertusa-Mataix; José Salvador García-Morillo;

doi: 10.32818/reccmi.a9n3a9

Leucoencefalopatía con sustancia blanca evanescente: un fenotipo intermedio en relación a una mutación heterocigota en EIF2B2

Abstract

Presentación de un caso atípico de leucoencefalopatía con sustancia blanca evanescente (LSBE) en pacientejoven con clínica compatible y mutación patogénica heterocigota en el gen EIF2B2. Este caso pone demanifiesto la importancia de la secuenciación génica en el despistaje de «enfermedades raras» como lasleucoencefalopatías y presenta, por primera vez, un fenotipo intermedio de LSBE de inicio en edad adultaen relación a una mutación patogénica heterocigota en EIF2B2.

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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
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