Research output per year
Research output per year
Research output
- 11 results
Search results
-
2024
Inborn errors of the malate aspartate shuttle – Update on patients and cellular models
Koch, J., Broeks, M. H., Gautschi, M., Jans, J. & Laemmle, A., Aug 2024, In: Molecular Genetics and Metabolism. 142, 4, 11 p., 108520.Research output: Contribution to journal › Review article › peer-review
Open AccessFile1 Downloads (Pure) -
Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases
van Karnebeek, C. D. M., O’Donnell-Luria, A., Baynam, G., Baudot, A., Groza, T., Jans, J. J. M., Lassmann, T., Letinturier, M. C. V., Montgomery, S. B., Robinson, P. N., Sansen, S., Mehrian-Shai, R., Steward, C., Kosaki, K., Durao, P. & Sadikovic, B., Dec 2024, In: Orphanet Journal of Rare Diseases. 19, 1, 357.Research output: Contribution to journal › Review article › peer-review
Open AccessFile1 Downloads (Pure) -
2023
Heterozygosity for bisphosphoglycerate mutase deficiency expressing clinically as congenital erythrocytosis: A case series and literature review
van Dijk, M. J., van Oirschot, B. A., Stam-Slob, M. C., Waanders, E., van der Zwaag, B., van Beers, E. J., Jans, J. J. M., van der Linden, P. W., Torregrosa Diaz, J. M., Gardie, B., Girodon, F., Schots, R., Thielen, N. & van Wijk, R., Jan 2023, In: British Journal of Haematology. 200, 2, p. 249-255 7 p.Research output: Contribution to journal › Review article › peer-review
Open AccessFile6 Downloads (Pure) -
2021
Inborn disorders of the malate aspartate shuttle
Broeks, M. H., van Karnebeek, C. D. M., Wanders, R. J. A., Jans, J. J. M. & Verhoeven-Duif, N. M., Jul 2021, In: Journal of Inherited Metabolic Disease. 44, 4, p. 792-808 17 p.Research output: Contribution to journal › Review article › peer-review
Open AccessFile8 Downloads (Pure) -
2020
Hurdles in treating Hurler disease: Potential routes to achieve a "real" cure
van den Broek, B. T. A., van Doorn, J., Hegeman, C. V., Nierkens, S., Lindemans, C. A., Verhoeven-Duif, N., Boelens, J. J. & van Hasselt, P. M., 23 Jun 2020, In: Blood Advances. 4, 12, p. 2837-2849 13 p.Research output: Contribution to journal › Review article › peer-review
Open Access7 Citations (Scopus) -
Inborn errors of enzymes in glutamate metabolism
Rumping, L., Vringer, E., Houwen, R. H., van Hasselt, P. M., Jans, J. J. & Verhoeven-Duif, N., Mar 2020, In: Journal of Inherited Metabolic Disease. 43, 2, p. 200-215 16 p.Research output: Contribution to journal › Review article › peer-review
Open AccessFile2 Downloads (Pure) -
Insulin-like growth factor-II and bioactive proteins containing a part of the E-domain of pro-insulin-like growth factor-II
van Doorn, J., 1 Jul 2020, In: BioFactors. 46, 4, p. 563-578 16 p.Research output: Contribution to journal › Review article › peer-review
Open AccessFile6 Downloads (Pure) -
2019
Current Insights into the Role of the Growth Hormone-Insulin-Like Growth Factor System in Short Children Born Small for Gestational Age
Renes, J. S., Van Doorn, J. & Hokken-Koelega, A. C. S., Dec 2019, In: Hormone Research in Paediatrics. 92, 1, p. 15-27 13 p.Research output: Contribution to journal › Review article › peer-review
Open AccessFile1 Downloads (Pure) -
Pathophysiology of propionic and methylmalonic acidemias. Part 1: Complications
Haijes, H. A., Jans, J. J. M., Tas, S. Y., Verhoeven-Duif, N. M. & van Hasselt, P. M., Sept 2019, In: Journal of Inherited Metabolic Disease. 42, 5, p. 730-744 15 p.Research output: Contribution to journal › Review article › peer-review
Open AccessFile1 Citation (Scopus)2 Downloads (Pure) -
Pathophysiology of propionic and methylmalonic acidemias. Part 2: Treatment strategies
Haijes, H. A., van Hasselt, P. M., Jans, J. J. M. & Verhoeven-Duif, N. M., Sept 2019, In: Journal of Inherited Metabolic Disease. 42, 5, p. 745-761 17 p.Research output: Contribution to journal › Review article › peer-review
Open AccessFile1 Citation (Scopus)2 Downloads (Pure) -
1991
DE KLINISCHE RELEVANTIE VAN DE METING VAN INSULINE-ACHTIGE GROEIFACTOREN IN HET PLASMA
Translated title of the contribution :The clinical aspects of the measurement of insulin-like growth factors in plasma Research output: Contribution to journal › Review article › peer-review
2 Citations (Scopus)