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...

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Foilsithe in: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
Formáid: Artigo
Teanga:Inglês
Foilsithe: Springer Netherlands 2016
Ábhair:
Original Article
Rochtain Ar Líne: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
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