Research output per year
Research output per year
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Targeted urine metabolomics with a graphical reporting tool for rapid diagnosis of inborn errors of metabolism
Steinbusch, L. K. M., Wang, P., Waterval, H. W. A. H., Stassen, F. A. P. M., Coene, K. L. M., Engelke, U. F. H., Habets, D. D. J., Bierau, J. & Korver-Keularts, I. M. L. W., 1 Sept 2021, In: Journal of Inherited Metabolic Disease. 44, 5, p. 1113-1123 11 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access9 Citations (Web of Science) -
Fast and accurate quantitative organic acid analysis with LC-QTOF/MS facilitates screening of patients for inborn errors of metabolism
Korver-Keularts, I. M. L. W., Wang, P., Waterval, H. W. A. H., Kluijtmans, L. A. J., Wevers, R. A., Langhans, C-D., Scott, C., Habets, D. D. J. & Bierau, J., May 2018, In: Journal of Inherited Metabolic Disease. 41, 3, p. 415-424 10 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access26 Citations (Web of Science) -
Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype
Hellebrekers, D. M., Sallevelt, S. C. E. H., Theunissen, T. E. J., Hendrickx, A. T. M., Gottschalk, R. W., Hoeijmakers, J. G. J., Habets, D. D., Bierau, J., Schoonderwoerd, K. G. & Smeets, H. J. M., Jun 2017, In: European Journal of Human Genetics. 25, 7, p. 886-888 3 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access21 Citations (Web of Science) -
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY: CLINICAL, BIOCHEMICAL AND MOLECULAR STUDY IN THREE EGYPTIAN PATIENTS
Selim, L., Van Coster, R., Mehaney, D., Hassan, F., Vanlander, A., Smet, J., De Latter, E., Vandemeulebroecke, K., Abdou, D. M., Nakhla, G., Mostafa, M., Habets, D., Bakker, J. & Baby, A. A., 2016, In: Genetic Counseling. 27, 2, p. 193-205Research output: Contribution to journal › Article › Academic › peer-review
3 Citations (Web of Science) -
THE EFFECT OF ITPA POLYMORPHISMS ON THE ENZYME KINETIC PROPERTIES OF HUMAN ERYTHROCYTE INOSINE TRIPHOSPHATASE TOWARD ITS SUBSTRATES ITP AND 6-THIO-ITP
Bakker, J. A., Lindhout, M., Habets, D. D. J., van den Wijngaard, A., Paulussen, A. D. C. & Bierau, J., 2011, In: Nucleosides Nucleotides & Nucleic Acids. 30, 11, p. 839-849Research output: Contribution to journal › Article › Academic › peer-review
11 Citations (Web of Science)