Association of metreleptin treatment and dietary intervention with neurological outcomes in Celia’s encephalopathy

Celia’s encephalopathy (progressive encephalopathy with/without lipodystrophy, PELD) is a recessive neurodegenerative disease that is fatal in childhood. It is caused by a c.985C>T variant in the BSCL2/seipin gene that results in an aberrant seipin protein. We evaluated neurological development b...

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Publicado no:Eur J Hum Genet
Main Authors: Araújo-Vilar, David, Domingo-Jiménez, Rosario, Ruibal, Álvaro, Aguiar, Pablo, Ibáñez-Micó, Salvador, Garrido-Pumar, Miguel, Martínez-Olmos, Miguel Ángel, López-Soler, Concepción, Guillín-Amarelle, Cristina, González-Rodríguez, María, Rodríguez-Núñez, Antonio, Álvarez-Escudero, Julián, Liñares-Paz, Mercedes, González-Méndez, Blanca, Rodríguez-García, Silvia, Sánchez-Iglesias, Sofía
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5839047/
https://ncbi.nlm.nih.gov/pubmed/29367704
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-017-0052-8
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