1. 2021
  2. An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

    Undiagnosed Diseases Network, Apr 2021, In: Genetics in medicine. 23, 4, p. 740-750 11 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. Increased protein propionylation contributes to mitochondrial dysfunction in liver cells and fibroblasts, but not in myotubes

    Lagerwaard, B., Pougovkina, O., Bekebrede, A. F., te Brinke, H., Wanders, R. J. A., Nieuwenhuizen, A. G., Keijer, J. & de Boer, V. C. J., Mar 2021, In: Journal of inherited metabolic disease. 44, 2, p. 438-449 12 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  4. Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids (Genetics in Medicine, (2021), 23, 4, (740-750), 10.1038/s41436-020-01027-3)

    Ferdinandusse, S., McWalter, K., te Brinke, H., IJlst, L., Mooijer, P. M., Ruiter, J. P. N., van Lint, A. E. M., Pras-Raves, M., Wever, E., Millan, F., Guillen Sacoto, M. J., Begtrup, A., Tarnopolsky, M., Brady, L., Ladda, R. L., Sell, S. L., Nowak, C. B., Douglas, J., Tian, C., Ulm, E. & 31 others, Perlman, S., Drack, A. V., Chong, K., Martin, N., Brault, J., Brokamp, E., Toro, C., Gahl, W. A., Macnamara, E. F., Wolfe, L., Alejandro, M. E., Azamian, M. S., Bacino, C. A., Balasubramanyam, A., Burrage, L. C., Chao, H-T., Clark, G. D., Craigen, W. J., Dai, H., Dhar, S. U., Emrick, L. T., Goldman, A. M., Hanchard, N. A., Jamal, F., Karaviti, L., Undiagnosed Diseases Network, Zwijnenburg, P. J. G., van Kampen, A. H. C., Wanders, R. J. A., Waterham, H. R. & Vaz, F. M., 2021, (E-pub ahead of print) In: Genetics in medicine.

    Research output: Contribution to journalComment/Letter to the editorAcademic

  5. 2019
  6. A mutation creating an upstream translation initiation codon in SLC22A5 5'UTR is a frequent cause of primary carnitine deficiency

    Ferdinandusse, S., te Brinke, H., Ruiter, J. P. N., Haasjes, J., Oostheim, W., van Lenthe, H., IJlst, L., Ebberink, M. S., Wanders, R. J. A., Vaz, F. M. & Waterham, H. R., 2019, In: Human mutation. 40, 10, p. 1899-1904

    Research output: Contribution to journalArticleAcademicpeer-review

  7. 2017
  8. Prediction of phenotypic severity in mucopolysaccharidosis type IIIA

    Knottnerus, S. J. G., Nijmeijer, S. C. M., Ijlst, L., te Brinke, H., van Vlies, N. & Wijburg, F. A., 2017, In: Annals of neurology. 82, 5, p. 686-696

    Research output: Contribution to journalArticleAcademicpeer-review

  9. Processing of mutant N-acetyl-alpha-glucosaminidase in mucopolysaccharidosis type IIIB fibroblasts cultured at low temperature

    Meijer, O. L. M., te Brinke, H., Ofman, R., IJlst, L., Wijburg, F. A. & van Vlies, N., 2017, In: Molecular genetics and metabolism. 122, 1-2, p. 100-106

    Research output: Contribution to journalArticleAcademicpeer-review

  10. 2015
  11. Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria

    Hagen, J., te Brinke, H., Wanders, R. J. A., Knegt, A. C., Oussoren, E., Hoogeboom, A. J. M., Ruijter, G. J. G., Becker, D., Schwab, K. O., Franke, I., Duran, M., Waterham, H. R., Sass, J. O. & Houten, S. M., 2015, In: Journal of inherited metabolic disease. 38, 5, p. 873-879

    Research output: Contribution to journalArticleAcademicpeer-review

  12. Proteomic and Biochemical Studies of Lysine Malonylation Suggest Its Malonic Aciduria-associated Regulatory Role in Mitochondrial Function and Fatty Acid Oxidation

    Colak, G., Pougovkina, O., Dai, L., Tan, M., te Brinke, H., Huang, H., Cheng, Z., Park, J., Wan, X., Liu, X., Yue, W. W., Wanders, R. J. A., Locasale, J. W., Lombard, D. B., de Boer, V. C. J. & Zhao, Y., 2015, In: Molecular & cellular proteomics. 14, 11, p. 3056-3071

    Research output: Contribution to journalArticleAcademicpeer-review

  13. 2014
  14. Aberrant protein acylation is a common observation in inborn errors of acyl-CoA metabolism

    Pougovkina, O., te Brinke, H., Wanders, R. J. A., Houten, S. M. & de Boer, V. C. J., 2014, In: Journal of inherited metabolic disease. 37, 5, p. 709-714

    Research output: Contribution to journalArticleAcademicpeer-review

  15. ACAD9, a complex I assembly factor with a moonlighting function in fatty acid oxidation deficiencies

    Nouws, J., te Brinke, H., Nijtmans, L. G. & Houten, S. M., 2014, In: Human molecular genetics. 23, 5, p. 1311-1319

    Research output: Contribution to journalArticleAcademicpeer-review

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