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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Detalhes bibliográficos
Publicado no: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
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Netherlands 2016
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Original Article
Acesso em linha: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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