1. 2020
  2. Skeletal muscle in healthy humans exhibits a day-night rhythm in lipid metabolism

    Held, N. M., Wefers, J., van Weeghel, M., Daemen, S., Hansen, J., Vaz, F. M., van Moorsel, D., Hesselink, M. K. C., Houtkooper, R. H. & Schrauwen, P., 1 Jul 2020, In : Molecular metabolism. 37, 100989.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. Contributions of amino acid, acylcarnitine and sphingolipid profiles to type 2 diabetes risk among South-Asian Surinamese and Dutch adults

    Muilwijk, M., Goorden, S. M. I., Celis-Morales, C., Hof, M. H., Ghauharali-van der Vlugt, K., Beers-Stet, F. S., Gill, J. M. R., Vaz, F. M. & van Valkengoed, I. G. M., 1 May 2020, In : BMJ open diabetes research & care. 8, 1

    Research output: Contribution to journalArticleAcademicpeer-review

  4. Mild Zellweger syndrome due to functionally confirmed novel PEX1 variants

    Lipiński, P., Stawiński, P., Rydzanicz, M., Wypchło, M., Płoski, R., Stradomska, T. J., Jurkiewicz, E., Ferdinandusse, S., Wanders, R. J. A., Vaz, F. M. & Tylki-Szymańska, A., Feb 2020, In : Journal of applied genetics. 61, 1, p. 87-91 5 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  5. Biochemical and imaging parameters in acid sphingomyelinase deficiency: Potential utility as biomarkers

    Eskes, E. C. B., Sjouke, B., Vaz, F. M., Goorden, S. M. I., van Kuilenburg, A. B. P., Aerts, J. M. F. G. & Hollak, C. E. M., 2020, In : Molecular genetics and metabolism. 130, 1, p. 16-26 11 p.

    Research output: Contribution to journalReview articleAcademicpeer-review

  6. 2019
  7. Slc22a5 haploinsufficiency does not aggravate the phenotype of the long-chain acyl-CoA dehydrogenase KO mouse

    Ranea-Robles, P., Yu, C., van Vlies, N., Vaz, F. M. & Houten, S. M., 17 Dec 2019, In : Journal of inherited metabolic disease.

    Research output: Contribution to journalArticleAcademicpeer-review

  8. Delayed appearance of 3-methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis

    Baban, A., Adorisio, R., Corica, B., Rizzo, C., Calì, F., Semeraro, M., Taurisano, R., Magliozzi, M., Carrozzo, R., Parisi, F., Dallapiccola, B., Vaz, F. M., Drago, F. & Dionisi-Vici, C., 15 Nov 2019, In : American journal of medical genetics. Part A. 182, 1, p. 64-70

    Research output: Contribution to journalArticleAcademicpeer-review

  9. Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia

    Deciphering Developmental Disorders Study, Vaz, F. M., McDermott, J. H., Alders, M., Wortmann, S. B., Kölker, S., Pras-Raves, M. L., Vervaart, M. A. T., van Lenthe, H., Luyf, A. C. M., Elfrink, H. L., Metcalfe, K., Cuvertino, S., Clayton, P. E., Yarwood, R., Lowe, M. P., Lovell, S., Rogers, R. C., van Kampen, A. H. C., Ruiter, J. P. N. & 5 others, Wanders, R. J. A., Ferdinandusse, S., van Weeghel, M., Engelen, M. & Banka, S., 1 Nov 2019, In : Brain. 142, 11, p. 3382-3397 16 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  10. Right ventricular pressure overload alters cardiac lipid composition

    Koop, A. M. C., Hagdorn, Q. A. J., Bossers, G. P. L., van Leusden, T., Gerding, A., van Weeghel, M., Vaz, F. M., Koonen, D. P. Y., Silljé, H. H. W., Berger, R. M. F. & Bartelds, B., 15 Jul 2019, In : International journal of cardiology. 287, p. 96-105

    Research output: Contribution to journalArticleAcademicpeer-review

  11. Oral therapy for riboflavin transporter deficiency - What is the regimen of choice?

    Gorcenco, S., Vaz, F. M., Tracewska-Siemiatkowska, A., Tranebjærg, L., Cremers, F. P. M., Ygland, E., Kicsi, J., Rendtorff, N. D., Möller, C., Kjellström, U., Andréasson, S. & Puschmann, A., Apr 2019, In : Parkinsonism & related disorders. 61, p. 245-247 3 p.

    Research output: Contribution to journalComment/Letter to the editorAcademic

  12. Translational Metabolism: A multidisciplinary approach towards precision diagnosis of inborn errors of metabolism in the omics era

    Wanders, R. J. A., Vaz, F. M., Ferdinandusse, S., van Kuilenburg, A. B. P., Kemp, S., van Karnebeek, C. D., Waterham, H. R. & Houtkooper, R. H., Mar 2019, In : Journal of inherited metabolic disease. 42, 2, p. 197-208 12 p.

    Research output: Contribution to journalReview articleAcademicpeer-review

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