Generic Portal
— Research Explorer
- 2018
Enzyme replacement therapy for mucopolysaccharidosis type IV (Morquio syndrome)
Shemesh, E., Deroma, L., Hendriksz, C. J., Hollak, C. & Krishan, A., 2018, In: Cochrane database of systematic reviews (Online). 2018, 3, CD012961.Research output: Contribution to journal › Article › Academic › peer-review
Hepatocellular carcinoma in Gaucher disease: an international case series
Regenboog, M., van Dussen, L., Verheij, J., Weinreb, N. J., Santosa, D., vom Dahl, S., Häussinger, D., Müller, M. N., Canbay, A., Rigoldi, M., Piperno, A., Dinur, T., Zimran, A., Mistry, P. K., Salah, K. Y., Belmatoug, N., Kuter, D. J. & Hollak, C. E. M., 2018, In: Journal of inherited metabolic disease. 41, 5, p. 819-827Research output: Contribution to journal › Article › Academic › peer-review
Improvement in bone marrow infiltration in patients with type I Gaucher disease treated with taliglucerase alfa
Zimran, A., Dinur, T., Revel-Vilk, S., Akkerman, E. M., van Dussen, L., Hollak, C. E. M., Maayan, H., Altarescu, G., Chertkoff, R. & Maas, M., 2018, In: Journal of inherited metabolic disease. 41, 6, p. 1259-1265Research output: Contribution to journal › Article › Academic › peer-review
Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease
Biegstraaten, M., Cox, T. M., Belmatoug, N., Berger, M. G., Collin-Histed, T., vom Dahl, S., Di Rocco, M., Fraga, C., Giona, F., Giraldo, P., Hasanhodzic, M., Hughes, D. A., Iversen, P. O., Kiewiet, A. I., Lukina, E., Machaczka, M., Marinakis, T., Mengel, E., Pastores, G. M., Plöckinger, U., & 10 others, 2018, In: Blood cells, molecules & diseases. 68, p. 203-208Research output: Contribution to journal › Article › Academic › peer-review
Mucolipidosis type III, a series of adult patients
Oussoren, E., van Eerd, D., Murphy, E., Lachmann, R., van der Meijden, J. C., Hoefsloot, L. H., Verdijk, R., Ruijter, G. J. G., Maas, M., Hollak, C. E. M., Langendonk, J. G., van der Ploeg, A. T. & Langeveld, M., 2018, In: Journal of inherited metabolic disease. 41, 5, p. 839-848Research output: Contribution to journal › Article › Academic › peer-review
Oncologic orphan drugs approved in the EU - Do clinical trial data correspond with real-world effectiveness?
Schuller, Y., Biegstraaten, M., Hollak, C. E. M., Klümpen, H-J., Gispen-de Wied, C. C. & Stoyanova-Beninska, V., 2018, In: Orphanet journal of rare diseases. 13, 1, 214.Research output: Contribution to journal › Article › Academic › peer-review
Outrageous prices of orphan drugs: a call for collaboration
Second Workshop on Orphan Drugs participants, 2018, In: Lancet. 392, 10149, p. 791-794Research output: Contribution to journal › Comment/Letter to the editor › Academic
Phenotype, disease severity and pain are major determinants of quality of life in Fabry disease: results from a large multicenter cohort study
Arends, M., Körver, S., Hughes, D. A., Mehta, A., Hollak, C. E. M. & Biegstraaten, M., 2018, In: Journal of inherited metabolic disease. 41, 1, p. 141-149Research output: Contribution to journal › Article › Academic › peer-review
Rapid screening for lipid storage disorders using biochemical markers Expert center data and review of the literature
Voorink-Moret, M., Goorden, S. M. I., van Kuilenburg, A. B. P., Wijburg, F. A., Ghauharali-van der Vlugt, J. M. M., Beers-Stet, F. S., Zoetekouw, A., Kulik, W., Hollak, C. E. M. & Vaz, F. M., 2018, In: Molecular genetics and metabolism. 123, 2, p. 76-84Research output: Contribution to journal › Article › Academic › peer-review
Response to the Letter to the Editor Regarding "Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria"
Demirdas, S., van Spronsen, F. J., Hollak, C. E. M., van der Lee, J. H., Bisschop, P. H., Vaz, F. M., ter Horst, N. M., Rubio-Gozalbo, M. E. & Bosch, A. M., 2018, In: Annals of nutrition & metabolism. 72, 1, p. 80-81Research output: Contribution to journal › Article › Academic › peer-review
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