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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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5065608/
https://www.ncbi.nlm.nih.gov/pubmed/27469511
http://dx.doi.org/10.1007/s10545-016-9962-9