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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Bibliografski detalji
Izdano u:J Inherit Metab Dis
Glavni autori: 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
Jezik:Inglês
Izdano: Springer Netherlands 2016
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Original Article
Online pristup: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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