TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation

Jos C. Jansen, Sharita Timal, Monique van Scherpenzeel, Helen Michelakakis, Dorothee Vicogne, Angel Ashikov, Marina Moraitou, Alexander Hoischen, Karin Huijben, Gerry Steenbergen, Marjolein A. W. van den Boogert, Francesco Porta, Pier Luigi Calvo, Mersyni Mavrikou, Giovanna Cenacchi, Geert van den Bogaart, Jody Salomon, Adriaan G. Holleboom, Richard J Rodenburg, Joost P. H. DrenthMartijn A Huynen, Ron A. Wevers, Eva Morava, Francois Foulquier, Joris A. Veltman, Dirk J. Lefeber

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)322-330
JournalAmerican Journal of Human Genetics
Volume98
Issue number2
DOIs
Publication statusPublished - 4 Feb 2016

Cite this

Jansen, J. C., Timal, S., van Scherpenzeel, M., Michelakakis, H., Vicogne, D., Ashikov, A., Moraitou, M., Hoischen, A., Huijben, K., Steenbergen, G., van den Boogert, M. A. W., Porta, F., Calvo, P. L., Mavrikou, M., Cenacchi, G., van den Bogaart, G., Salomon, J., Holleboom, A. G., Rodenburg, R. J., ... Lefeber, D. J. (2016). TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation. American Journal of Human Genetics, 98(2), 322-330. https://doi.org/10.1016/j.ajhg.2015.12.011