1. 2022
  2. Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands

    Schwantje, M., Fuchs, S. A., de Boer, L., Bosch, A. M., Cuppen, I., Dekkers, E., Derks, T. G. J., Ferdinandusse, S., Ijlst, L., Houtkooper, R. H., Maase, R., van der Pol, W. L., de Vries, M. C., Verschoof-Puite, R. K., Wanders, R. J. A., Williams, M., Wijburg, F. & Visser, G., Jul 2022, In: Journal of inherited metabolic disease. 45, 4, p. 804-818 15 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. Thermo-sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy

    Schwantje, M., Ebberink, M. S., Doolaard, M., Ruiter, J. P. N., Fuchs, S. A., Darin, N., Hedberg-Oldfors, C., Régal, L., Donker Kaat, L., Huidekoper, H. H., Olpin, S., Cole, D., Moat, S. J., Visser, G. & Ferdinandusse, S., Jul 2022, In: Journal of inherited metabolic disease. 45, 4, p. 819-831 13 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  4. Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echocardiography

    Veenvliet, A. R. J., Garrelfs, M. R., Udink ten Cate, F. E. A., Ferdinandusse, S., Denis, S., Fuchs, S. A., Schwantje, M., Geurtzen, R., van Wegberg, A. M. J., Huigen, M. C. D. G., Kluijtmans, L. A. J., Wanders, R. J. A., Derks, T. G. J., de Boer, L., Houtkooper, R. H., de Vries, M. C. & van Karnebeek, C. D. M., 1 Jun 2022, In: Molecular genetics and metabolism reports. 31, 100873.

    Research output: Contribution to journalArticleAcademicpeer-review

  5. 3-Hydroxyisobutyric acid dehydrogenase deficiency: Expanding the clinical spectrum and quantitation of D- and L-3-Hydroxyisobutyric acid by an LC–MS/MS method

    Sasarman, F., Ferdinandusse, S., Sinasac, D. S., Fung, E., Sparkes, R., Reeves, M., Rombough, C., Sass, J. R. O., Voit, R., Ruiter, J. P. N., Koster, J., Waterham, H. R., Pasquini, E., Donati, M. A., Marquardt, T., Wanders, R. J. A. & Al-Hertani, W., May 2022, In: Journal of inherited metabolic disease. 45, 3, p. 445-455 11 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  6. Clinical characteristics of primary carnitine deficiency: A structured review using a case-by-case approach

    Crefcoeur, L. L., Visser, G., Ferdinandusse, S., Wijburg, F. A., Langeveld, M. & Sjouke, B., May 2022, In: Journal of inherited metabolic disease. 45, 3, p. 386-405 20 p.

    Research output: Contribution to journalReview articleAcademicpeer-review

  7. D-bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia

    Werner, K. M., Cox, A. J., Qian, E., Jain, P., Ji, W., Tikhonova, I., Castaldi, C., Bilguvar, K., Knight, J., Ferdinandusse, S., Fawaz, R., Jiang, Y-H., Gallagher, P. G., Bizzarro, M., Gruen, J. R., Bale, A. & Zhang, H., Jan 2022, In: American journal of medical genetics. Part A. 188, 1, p. 357-363 7 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  8. 2021
  9. Biochemical studies in fibroblasts to interpret variants of unknown significance in the abcd1 gene

    van de Stadt, S. I. W., Mooyer, P. A. W., Dijkstra, I. M. E., Dekker, C. J. M., Vats, D., Vera, M., Ruzhnikov, M. R. Z., van Haren, K., Tang, N., Koop, K., Willemsen, M. A., Hui, J., Vaz, F. M., Ebberink, M. S., Engelen, M., Kemp, S. & Ferdinandusse, S., 1 Dec 2021, In: Genes. 12, 12, 1930.

    Research output: Contribution to journalArticleAcademicpeer-review

  10. Autophagy Inhibitors Do Not Restore Peroxisomal Functions in Cells With the Most Common Peroxisome Biogenesis Defect

    Klouwer, F. C. C., Falkenberg, K. D., Ofman, R., Koster, J., van Gent, D. M., Ferdinandusse, S., Wanders, R. J. A. & Waterham, H. R., 1 Apr 2021, In: Frontiers in cell and developmental biology. 9, 661298.

    Research output: Contribution to journalArticleAcademicpeer-review

  11. 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

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