Amsterdam Gastroenterology Endocrinology Metabolism
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Deficiency of perforin and hCNT1, a novel inborn error of pyrimidine metabolism, associated with a rapidly developing lethal phenotype due to multi-organ failure
Pérez-Torras, S., Mata-Ventosa, A., Drögemöller, B., Tarailo-Graovac, M., Meijer, J., Meinsma, R., van Cruchten, A. G., Kulik, W., Viel-Oliva, A., Bidon-Chanal, A., Ross, C. J., Wassermann, W. W., van Karnebeek, C. D. M., Pastor-Anglada, M. & van Kuilenburg, A. B. P., 1 Jun 2019, In: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE. 1865, 6, p. 1182-1191 10 p.Research output: Contribution to journal › Article* › Academic › peer-review
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Glutaminase deficiency caused by short tandem repeat expansion in GLS
van Kuilenburg, A. B. P., Tarailo-Graovac, M., Richmond, P. A., Drögemöller, B. I., Pouladi, M. A., Leen, R., Brand-Arzamendi, K., Dobritzsch, D., Dolzhenko, E., Eberle, M. A., Hayward, B., Jones, M. J., Karbassi, F., Kobor, M. S., Koster, J., Kumari, D., Li, M., MacIsaac, J., McDonald, C. & Meijer, J. & 25 others, , 11 Apr 2019, In: New England journal of medicine. 380, 15, p. 1433-1441 9 p.Research output: Contribution to journal › Article* › Academic › peer-review
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Dihydropyrimidine Dehydrogenase Deficiency: Homozygosity for an Extremely Rare Variant in DPYD due to Uniparental Isodisomy of Chromosome 1
van Kuilenburg, A. B. P., Meijer, J., Meinsma, R., Pérez-Dueñas, B., Alders, M., Bhuiyan, Z. A., Artuch, R. & Hennekam, R. C. M., 2019, In: JIMD reports. 45, p. 65-69 5 p.Research output: Contribution to journal › Article* › Academic › peer-review
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