Mutations in the CDSN gene cause peeling skin disease and hypotrichosis simplex of the scalp

por van der Velden, Jaap J. A. J., van Geel, Michel, Engelhart, Jans J., Jonkman, Marcel F., Steijlen, Peter M.
Publicado 2019

Understanding acute metabolic decompensation in propionic and methylmalonic acidemias: a deep metabolic phenotyping approach

por Haijes, H. A., Jans, J. J. M., van der Ham, M., van Hasselt, P. M., Verhoeven-Duif, N. M.
Publicado 2020

P1492: PHARMACODYNAMIC EFFECTS OF AG-946, A HIGHLY POTENT NOVEL ACTIVATOR OF PYRUVATE KINASE, IN EX VIVO TREATMENT OF RED BLOOD CELLS FROM SICKLE CELL DISEASE PATIENTS

por Rab, M., van Dijk, M., Bos, J., van Oirschot, B., Gerrits, J., Kosinski, P., Kung, C., Jans, J., van Beers, E., Dang, L., van Wijk, R.
Publicado 2022

Rapid quantification of underivatized amino acids in plasma by hydrophilic interaction liquid chromatography (HILIC) coupled with tandem mass-spectrometry

por Prinsen, Hubertus C. M. T., Schiebergen-Bronkhorst, B. G. M., Roeleveld, M. W., Jans, J. J. M., de Sain-van der Velden, M. G. M., Visser, G., van Hasselt, P. M., Verhoeven-Duif, N. M.
Publicado 2016

P1500: 2,3-DIPHOSPHOGLYCERATE DETECTION VIA DIRECT INFUSION HIGH RESOLUTION MASS SPECTROMETRY CORRELATES WITH QUANTITATIVE DETECTION IN BLOOD OF PATIENTS WITH SICKLE CELL DISEASE

por van der Veen, S., van Dijk, M., Jans, J., Verhoeven-Duif, N., van Wijk, R., Bartels, M., Mañú Pereira, M., Colombatti, R., Martella, M., Munaretto, V., Boaro, M., Bartolucci, P., Cnossen, M., Biemond, B., van Beers, E.
Publicado 2022

P1065: CONGENITAL ERYTHROCYTOSIS DUE TO HETEROZYGOUS VARIANTS IN THE BISPHOSPHOGLYCERATE MUTASE GENE

por van Dijk, M. J., van Oirschot, B. A., Stam-Slob, M. C., van der Zwaag, B., van Beers, E. J., Jans, J. J., van der Linden, P., Torregrosa Diaz, J. M., Gardie, B., Girodon, F., Schots, R., Thielen, N., van Wijk, R.
Publicado 2022

P1501: FOLLOW-UP RESULTS OF A PHASE 2 STUDY ASSESSING THE SAFETY AND EFFICACY OF MITAPIVAT TREATMENT, AN ORAL PYRUVATE KINASE ACTIVATOR, FOR UP TO 60 WEEKS IN SUBJECTS WITH SICKLE...

por van Dijk, M. J., Rab, M. A., van Oirschot, B. A., Bos, J., Derichs, C., Rijneveld, A. W., Cnossen, M. H., Nur, E., Biemond, B. J., Bartels, M., Jans, J. J., van Solinge, W. W., Schutgens, R. E., van Wijk, R., van Beers, E. J.
Publicado 2022

5589320 FOLLOW-UP RESULTS OF A PHASE 2 STUDY ASSESSING THE SAFETY AND EFFICACY OF MITAPIVAT TREATMENT, AN ORAL PYRUVATE KINASE ACTIVATOR, FOR UP TO 60 WEEKS IN SUBJECTS WITH SICKLE...

por van Dijk, M.J., Rab, M.A.E., van Oirschot, B.A., Bos, J.F., Derichs, C., Rijneveld, A.W., Cnossen, M.H., Nur, E., Biemond, B.J., Bartels, M., Jans, J.J.M., van Solinge, W.W., Schutgens, R.E.G., van Wijk, R., van Beers, E.J.
Publicado 2023

BIO FOr CARE: biomarkers of hypertrophic cardiomyopathy development and progression in carriers of Dutch founder truncating MYBPC3 variants—design and status

por Jansen, M., Christiaans, I., van der Crabben, S. N., Michels, M., Huurman, R., Hoedemaekers, Y. M., Dooijes, D., Jongbloed, J. D. H., Boven, L. G., Lekanne Deprez, R. H., Wilde, A. A. M., Jans, J. J. M., van der Velden, J., de Boer, R. A., van Tintelen, J. P., Asselbergs, F. W., Baas, A. F.
Publicado 2021