Mirjam Wamelink

DRS.

20082019
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Research Output 2008 2019

Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: update of 34 patients

Williams, M., Valayannopoulos, V., Altassan, R., Chung, W. K., Heijboer, A. C., Keng, W. T., Lapatto, R., McClean, P., Mulder, M. F., Tylki-Szymańska, A., Walenkamp, M-J. E., Alfadhel, M., Alakeel, H., Salomons, G. S., Eyaid, W. & Wamelink, M. M. C., 2019, In : Journal of Inherited Metabolic Disease. 42, 1, p. 147-158

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Confirmation of a Rare Genetic Leukoencephalopathy due to a Novel Bi-allelic Variant in RPIA

Kaur, P., Wamelink, M. M. C., van der Knaap, M. S., Girisha, K. M. & Shukla, A., 2019, In : European Journal of Medical Genetics. 62, 8, 103708.

Research output: Contribution to journalArticleAcademicpeer-review

DNA damage and transcription stress cause ATP-mediated redesign of metabolism and potentiation of anti-oxidant buffering

Milanese, C., Bombardieri, C. N. R., Sepe, S., Barnhoorn, S., Payán-Goméz, C. S., Caruso, D., Audano, M., Pedretti, S., Vermeij, W. P., Brandt, R. M. C., Gyenis, A., Wamelink, M. M., de Wit, A. S., Janssens, R. C., Leen, R., van Kuilenburg, A. B. P., Mitro, N., Hoeijmakers, J. H. J. & Mastroberardino, P. G., 2019, In : Nature Communications. 10, 1, 4887.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Severe infantile epileptic encephalopathy associated with D-glyceric aciduria: report of a novel case and review

Zehavi, Y., Mandel, H., Eran, A., Ravid, S., Abu Rashid, M., Jansen, E. E. W., Wamelink, M. M. C., Saada, A., Shaag, A., Elpeleg, O. & Spiegel, R., 2019, In : METABOLIC BRAIN DISEASE. 34, 2, p. 557-563

Research output: Contribution to journalArticleAcademicpeer-review

Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation

CDG group, 2018, In : Human Molecular Genetics. 27, 17, p. 3029-3045

Research output: Contribution to journalArticleAcademicpeer-review