Mirjam Wamelink


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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

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

Guanidinoacetate Methyltransferase Activity in Lymphocytes, for a Fast Diagnosis

Berends, L. M., Struys, E. A., Roos, B., Holwerda, U., Jansen, E. E. W., Salomons, G. S. & Wamelink, M. M. C., 2017, In : JIMD Reports. 37, p. 13-17 5 p.

Research output: Contribution to journalArticleAcademicpeer-review

Laboratory diagnosis of creatine deficiency syndromes: A technical standard and guideline of the American College of Medical Genetics and Genomics

Daniel Sharer, J., Bodamer, O., Longo, N., Tortorelli, S., Wamelink, M. M. C. & Young, S., 1 Feb 2017, In : Genetics in Medicine. 19, 2, p. 256-263 8 p.

Research output: Contribution to journalReview articleAcademicpeer-review

Rare case of ribose 5 phosphate isomerase deficiency with slowly progressive leukoencephalopathy

Naik, N., Shah, A., Wamelink, M. M. C., Van Der Knaap, M. S. & Hingwala, D., 1 Sep 2017, In : Neurology. 89, 11, p. 1195-1196 2 p.

Research output: Contribution to journalShort surveyAcademicpeer-review