Association of metreleptin treatment and dietary intervention with neurological outcomes in Celia’s...
Association of metreleptin treatment and dietary intervention with neurological outcomes in Celia’s encephalopathy
About this item
Full title
Author / Creator
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 and Sánchez-Iglesias, Sofía
Publisher
England: Nature Publishing Group
Journal title
Language
English
Formats
Publication information
Publisher
England: Nature Publishing Group
Subjects
More information
Scope and Contents
Contents
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 before and during treatment with human recombinant lep...
Alternative Titles
Full title
Association of metreleptin treatment and dietary intervention with neurological outcomes in Celia’s encephalopathy
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5839047
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5839047
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/s41431-017-0052-8
