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  1. 2016

  2. CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation

    Jansen, J. C., Cirak, S., van Scherpenzeel, M., Timal, S., Reunert, J., Rust, S., Pérez, B., Vicogne, D., Krawitz, P., Wada, Y., Ashikov, A., Pérez-Cerdá, C., Medrano, C., Arnoldy, A., Hoischen, A., Huijben, K., Steenbergen, G., Quelhas, D., Diogo, L., Rymen, D., & 23 othersJaeken, J., Guffon, N., Cheillan, D., van den Heuvel, L. P., Maeda, Y., Kaiser, O., Schara, U., Gerner, P., van den Boogert, M. A. W., Holleboom, A. G., Nassogne, M-C., Sokal, E., Salomon, J., van den Bogaart, G., Drenth, J. P. H., Huynen, M. A., Veltman, J. A., Wevers, R. A., Morava, E., Matthijs, G., Foulquier, F., Marquardt, T. & Lefeber, D. J., 2016, In: American journal of human genetics. 98, 2, p. 310-321

    Research output: Contribution to journal › Article › Academic › peer-review

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

    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., Drenth, J. P. H., & 6 othersHuynen, M. A., Wevers, R. A., Morava, E., Foulquier, F., Veltman, J. A. & Lefeber, D. J., 2016, In: American journal of human genetics. 98, 2, p. 322-330

    Research output: Contribution to journal › Article › Academic › peer-review

  4. 2015

  5. Lipoprotein profiles in human heterozygote carriers of a functional mutation P297S in scavenger receptor class B1

    Ljunggren, S. A., Levels, J. H. M., Hovingh, K., Holleboom, A. G., Vergeer, M., Argyri, L., Gkolfinopoulou, C., Chroni, A., Sierts, J. A., Kastelein, J. J., Kuivenhoven, J. A., Lindahl, M. & Karlsson, H., 2015, In: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS. 1851, 12, p. 1587-1595

    Research output: Contribution to journal › Article › Academic › peer-review

  6. 2014

  7. Adrenal Function in females with low plasma HDL-C due to mutations in ABCA1 and LCAT

    Bochem, A. E., Holleboom, A. G., Romijn, J. A., Hoekstra, M., Dallinga, G. M., Motazacker, M. M., Hovingh, G. K., Kuivenhoven, J. A. & Stroes, E. S. G., 2014, In: PLoS ONE. 9, 5, p. e90967

    Research output: Contribution to journal › Article › Academic › peer-review

  8. ApoA-I mutations, L202P and K131del, in HDL from heterozygotes with low HDL-C

    Ljunggren, S., Levels, J. H. M., Turkina, M. V., Sundberg, S., Bochem, A. E., Hovingh, K., Holleboom, A. G., Lindahl, M., Kuivenhoven, J. A. & Karlsson, H., 2014, In: Proteomics. Clinical applications. 8, 3-4, p. 241-250

    Research output: Contribution to journal › Article › Academic › peer-review

  9. Lipoprotein subfractions highly associated with renal damage in familial lecithin:cholesterol acyltransferase deficiency

    Kuroda, M., Holleboom, A. G., Stroes, E. S. G., Asada, S., Aoyagi, Y., Kamata, K., Yamashita, S., Ishibashi, S., Saito, Y. & Bujo, H., 2014, In: Arteriosclerosis, thrombosis, and vascular biology. 34, 8, p. 1756-1762

    Research output: Contribution to journal › Article › Academic › peer-review

  10. 2013

  11. ABCA1 mutation carriers with low high-density lipoprotein cholesterol are characterized by a larger atherosclerotic burden

    Bochem, A. E., van Wijk, D. F., Holleboom, A. G., Duivenvoorden, R., Motazacker, M. M., Dallinga-Thie, G. M., de Groot, E., Kastelein, J. J. P., Nederveen, A. J., Hovingh, G. K. & Stroes, E. S. G., 2013, In: European heart journal. 34, 4, p. 286-291

    Research output: Contribution to journal › Article › Academic › peer-review

  12. Familial LCAT deficiency: from renal replacement to enzyme replacement

    Stoekenbroek, R. M., van den Bergh Weerman, M. A., Hovingh, G. K., Potter van Loon, B. J., Siegert, C. E. H. & Holleboom, A. G., 2013, In: Netherlands journal of medicine. 71, 1, p. 29-31

    Research output: Contribution to journal › Article › Academic › peer-review

  13. High density lipoprotein as a source of cholesterol for adrenal steroidogenesis: a study in individuals with low plasma HDL-C

    Bochem, A. E., Holleboom, A. G., Romijn, J. A., Hoekstra, M., Dallinga-Thie, G. M., Motazacker, M. M., Hovingh, G. K., Kuivenhoven, J. A. & Stroes, E. S. G., 2013, In: Journal of lipid research. 54, 6, p. 1698-1704

    Research output: Contribution to journal › Article › Academic › peer-review

  14. In vivo tissue cholesterol efflux is reduced in carriers of a mutation in APOA1

    Holleboom, A. G., Jakulj, L., Franssen, R., Decaris, J., Vergeer, M., Koetsveld, J., Luchoomun, J., Glass, A., Hellerstein, M. K., Kastelein, J. J. P., Hovingh, G. K., Kuivenhoven, J. A., Groen, A. K., Turner, S. M. & Stroes, E. S. G., 2013, In: Journal of lipid research. 54, 7, p. 1964-1971

    Research output: Contribution to journal › Article › Academic › peer-review

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