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Kidney and vascular function in adult patients with hereditary fructose intolerance

Simons, N., Debray, F-G., Schaper, N. C., Feskens, E. J. M., Hollak, C. E. M., Bons, J. A. P., Bierau, J. R., Houben, A. J. H. M., Schalkwijk, C. G., Stehouwer, C. D. A., Cassiman, D. & Brouwers, M. C. G. J., 1 Jun 2020, In: Molecular genetics and metabolism reports. 23, 100600.

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

The 1-13C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes

Welsink-Karssies, M. M., van Harskamp, D., Ferdinandusse, S., Hollak, C. E. M., Huidekoper, H. H., Janssen, M. C. H., Kemper, E. M., Langendonk, J. G., Rubio-Gozalbo, M. E., de Vries, M. C., Wijburg, F. A., Schierbeek, H. & Bosch, A. M., 1 May 2020, In: Journal of inherited metabolic disease. 43, 3, p. 507-517 11 p.

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

Biochemical and imaging parameters in acid sphingomyelinase deficiency: Potential utility as biomarkers

Eskes, E. C. B., Sjouke, B., Vaz, F. M., Goorden, S. M. I., van Kuilenburg, A. B. P., Aerts, J. M. F. G. & Hollak, C. E. M., May 2020, In: Molecular genetics and metabolism. 130, 1, p. 16-26 11 p.

Research output: Contribution to journal › Review article › Academic › peer-review

Bone mineral density is within normal range in most adult phenylketonuria patients

Lubout, C. M. A., Blanco, F. A., Bartosiewicz, K., Feillet, F., Gizewska, M., Hollak, C., van der Lee, J. H., Maillot, F., Stepien, K. M., Wagenmakers, M. A. E. M., Welsink-Karssies, M. M., van Spronsen, F. J. & Bosch, A. M., 1 Mar 2020, In: Journal of inherited metabolic disease. 43, 2, p. 251-258 8 p.

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

The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes

Welsink-Karssies, M. M., van Weeghel, M., Hollak, C. E. M., Elfrink, H. L., Janssen, M. C. H., Lai, K., Langendonk, J. G., Oussoren, E., Ruiter, J. P. N., Treacy, E. P., de Vries, M., Ferdinandusse, S. & Bosch, A. M., Mar 2020, In: Molecular genetics and metabolism. 129, 3, p. 171-176 6 p.

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

Classical galactosemia: Neuropsychological and psychosocial functioning beyond intellectual abilities

Welsink-Karssies, M. M., Oostrom, K. J., Hermans, M. E., Hollak, C. E. M., Janssen, M. C. H., Langendonk, J. G., Oussoren, E., Gozalbo, M. E. R., de Vries, M., Geurtsen, G. J. & Bosch, A. M., 7 Feb 2020, In: Orphanet journal of rare diseases. 15, 1, 42.

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

Continued misuse of orphan drug legislation: a life-threatening risk for mexiletine

Postema, P. G., Schwartz, P. J., Arbelo, E., Bannenberg, W. J., Behr, E. R., Belhassen, B., Brugada, J., Brugada, P., John Camm, A., Casado-Arroyo, R., 't Hoen, E., Hollak, C. E. M., Kääb, S., Lambiase, P. D., Leenhardt, A., Priori, S. G., Probst, V., Stunnenberg, B. C., Tfelt-Hansen, J., van Engelen, B. G. M., & 3 othersVeltmann, C., Viskin, S. & Wilde, A. A. M., 1 Feb 2020, In: European heart journal. 41, 5, p. 614-617 4 p.

Research output: Contribution to journal › Review article › Academic › peer-review

Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers

Welsink-Karssies, M. M., Ferdinandusse, S., Geurtsen, G. J., Hollak, C. E. M., Huidekoper, H. H., Janssen, M. C. H., Langendonk, J. G., Van Der Lee, J. H., O'flaherty, R., Oostrom, K. J., Roosendaal, S. D., Rubio-Gozalbo, M. E., Saldova, R., Treacy, E. P., Vaz, F. M., De Vries, M. C., Engelen, M. & Bosch, A. M., 29 Jan 2020, In: Brain Communications. 2, 1, fcaa006.

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

Depressive symptoms in Fabry disease: The importance of coping, subjective health perception and pain

Körver, S., Geurtsen, G. J., Hollak, C. E. M., van Schaik, I. N., Longo, M. G. F., Lima, M. R., Vedolin, L., Dijkgraaf, M. G. W. & Langeveld, M., 28 Jan 2020, In: Orphanet journal of rare diseases. 15, 1, 28.

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

Long-Term Outcomes and Practical Considerations in the Pharmacological Management of Tyrosinemia Type 1

van Ginkel, W. G., Rodenburg, I. L., Harding, C. O., Hollak, C. E. M., Heiner-Fokkema, M. R. & van Spronsen, F. J., Dec 2019, In: Paediatric drugs. 21, 6, p. 413-426

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