Cholic acid therapy in Zellweger spectrum disorders

INTRODUCTION: Zellweger spectrum disorders (ZSDs) are characterized by a failure in peroxisome formation, caused by autosomal recessive mutations in different PEX genes. At least some of the progressive and irreversible clinical abnormalities in patients with a ZSD, particularly liver dysfunction, a...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:J Inherit Metab Dis
Main Authors: Berendse, Kevin, Klouwer, Femke C. C., Koot, Bart G. P., Kemper, Elles M., Ferdinandusse, Sacha, Koelfat, Kiran V. K., Lenicek, Martin, Schaap, Frank G., Waterham, Hans R., Vaz, Frédéric M., Engelen, Marc, Jansen, Peter L. M., Wanders, Ronald J. A., Poll-The, Bwee Tien
Format: Artigo
Sprog:Inglês
Udgivet: Springer Netherlands 2016
Fag:
Original Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5065608/
https://ncbi.nlm.nih.gov/pubmed/27469511
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-016-9962-9
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker