Acid Ceramidase Deficiency in Mice Results in a Broad Range of Central Nervous System Abnormalities

Farber disease is a rare autosomal recessive disorder caused by acid ceramidase deficiency that usually presents as early-onset progressive visceral and neurologic disease. To understand the neurologic abnormality, we investigated behavioral, biochemical, and cellular abnormalities in the central ne...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Am J Pathol
Main Authors: Sikora, Jakub, Dworski, Shaalee, Jones, E. Ellen, Kamani, Mustafa A., Micsenyi, Matthew C., Sawada, Tomo, Le Faouder, Pauline, Bertrand-Michel, Justine, Dupuy, Aude, Dunn, Christopher K., Xuan, Ingrid Cong Yang, Casas, Josefina, Fabrias, Gemma, Hampson, David R., Levade, Thierry, Drake, Richard R., Medin, Jeffrey A., Walkley, Steven U.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Investigative Pathology 2017
Assuntos:
Regular Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5397689/
https://ncbi.nlm.nih.gov/pubmed/28342444
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajpath.2016.12.005
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados