Amsterdam Gastroenterology Endocrinology Metabolism

Monitoring phenylalanine concentrations in the follow-up of phenylketonuria patients: An inventory of pre-analytical and analytical variation

Coene, K. L. M., Timmer, C., Goorden, S. M. I., ten Hoedt, A. E., Kluijtmans, L. A. J., Janssen, M. C. H., Rennings, A. J. M., Prinsen, H. C. M. T., Wamelink, M. M. C., Ruijter, G. J. G., Körver-Keularts, I. M. L. W., Heiner-Fokkema, M. R., van Spronsen, F. J., Hollak, C. E., Vaz, F. M., Bosch, A. M. & Huigen, M. C. D. G., 1 Mar 2021, In: JIMD reports. 58, 1, p. 70-79 10 p.

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

An atypical course of coxsackievirus A6 associated hand, foot and mouth disease in extremely low birth weight preterm twins

Bruning, A. H. L., van der Sanden, S. M. G., ten Hoedt, A. E., Wolthers, K. C., van Kaam, A. H. & Pajkrt, D., 2015, In: Journal of clinical virology. 65, p. 20-22

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

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy

Cullup, T., Kho, A. L., Dionisi-Vici, C., Brandmeier, B., Smith, F., Urry, Z., Simpson, M. A., Yau, S., Bertini, E., McClelland, V., Al-Owain, M., Koelker, S., Koerner, C., Hoffmann, G. F., Wijburg, F. A., ten Hoedt, A. E., Rogers, R. C., Manchester, D., Miyata, R., Hayashi, M., & 17 othersSaid, E., Soler, D., Kroisel, P. M., Windpassinger, C., Filloux, F. M., Al-Kaabi, S., Hertecant, J., del Campo, M., Buk, S., Bodi, I., Goebel, H-H., Sewry, C. A., Abbs, S., Mohammed, S., Josifova, D., Gautel, M. & Jungbluth, H., 2013, In: Nature Genetics. 45, 1, p. 83-87

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