Metreleptin for the treatment of progressive encephalopathy with/without lipodystrophy (PELD) in a child with progressive myoclonic epilepsy: a case report

BACKGROUND: A number of genetic syndromes associated with variants in the BSCL2/seipin gene have been identified. Variants that cause skipping of exon 7 are associated with progressive encephalopathy with/without lipodystrophy (PELD), which is characterized by the development of progressive myocloni...

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Detalles Bibliográficos
Autores principales: Pedicelli, Stefania, de Palma, Luca, Pelosini, Caterina, Cappa, Marco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7585287/
https://www.ncbi.nlm.nih.gov/pubmed/33099310
http://dx.doi.org/10.1186/s13052-020-00916-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7585287/
https://www.ncbi.nlm.nih.gov/pubmed/33099310
http://dx.doi.org/10.1186/s13052-020-00916-2

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