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Profiles

No photo of Marisa Simas Mendes
20162018
No photo of Desiree Smith

Desiree Smith

Person: Academic

20072018

Research Output 1999 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

De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment

DOOFNL Consortium, 11 Jan 2019, In : Human Genetics. 138, 1, p. 61-72 12 p.

Research output: Contribution to journalArticleAcademicpeer-review

Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency

Bleeker, J. C., Kok, I. L., Ferdinandusse, S., de Vries, M., Derks, T. G. J., Mulder, M. F., Williams, M., Gozalbo, E. R., Bosch, A. M., van den Hurk, D. T., de Sain-van der Velden, M. G. M., Waterham, H. R., Wijburg, F. A. & Visser, G., 2019, In : Journal of Inherited Metabolic Disease. 42, 1, p. 159-168

Research output: Contribution to journalArticleAcademicpeer-review

Open Access