Maria Walenkamp

20052019

Research output per year

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Research Output

  • 14 Article
  • 2 Comment/Letter to the editor
  • 1 Letter

A homozygous mutation in the highly conserved Tyr60 of the mature IGF1 peptide broadens the spectrum of IGF1 deficiency

Walenkamp, M. J. E. & Wit, J. M., 1 Jan 2019, In : European Journal of Endocrinology. 181, 6, p. C29-C33

Research output: Contribution to journalComment/Letter to the editorAcademic

Open Access

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., 1 Jan 2019, In : Journal of Inherited Metabolic Disease. 42, 1, p. 147-158 12 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Intrauterine Twin Discordancy and Partial Postnatal Catch-up Growth in a Girl with a Pathogenic IGF1R Mutation

Ocaranza, P., Losekoot, M., Walenkamp, M. J. E., de Bruin, C., Wit, J. M. & Mericq, V., 1 Sep 2019, In : JCRPE Journal of Clinical Research in Pediatric Endocrinology. 11, 3, p. 293-300

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Phenotypic Features and Response to GH Treatment of Patients with a Molecular Defect of the IGF-1 Receptor

Walenkamp, M. J. E., Robers, J. M. L., Wit, J. M., Zandwijken, G. R. J., van Duyvenvoorde, H. A., Oostdijk, W., Hokken-Koelega, A. C. S., Kant, S. G. & Losekoot, M., 19 Jun 2019, In : Journal of Clinical Endocrinology and Metabolism. 104, 8, p. 3157-3171

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Children Born Small for Gestational Age: Differential Diagnosis, Molecular Genetic Evaluation, and Implications

Finken, M. J. J., van der Steen, M., Smeets, C. C. J., Walenkamp, M. J. E., de Bruin, C., Hokken-Koelega, A. C. S. & Wit, J. M., 2018, In : Endocrine Reviews. 39, 6, p. 851-894

Research output: Contribution to journalArticleAcademicpeer-review