1. 2021
  2. Breaking down long-chain fatty acid oxidation disorders: From pathophysiology to better treatment

    Knottnerus, S. J. G., 2021, 214 p.

    Research output: ThesisPhd-Thesis - Research and graduation internal

  3. 2020
  4. Development and validation of a gas chromatography–mass spectrometry method to analyze octanoate enrichments at low concentrations in human plasma

    van Harskamp, D., Knottnerus, S. J. G., Visser, G., van Goudoever, J. B. & Schierbeek, H., 1 Sep 2020, In: Analytical and bioanalytical chemistry. 412, 23, p. 5789-5797 9 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  5. Prediction of VLCAD deficiency phenotype by a metabolic fingerprint in newborn screening bloodspots

    Knottnerus, S. J. G., Pras-Raves, M. L., van der Ham, M., Ferdinandusse, S., Houtkooper, R. H., Schielen, P. C. J. I., Visser, G., Wijburg, F. A. & de Sain-van der Velden, M. G. M., 1 Jun 2020, In: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE. 1866, 6, 165725.

    Research output: Contribution to journalArticleAcademicpeer-review

  6. 2018
  7. Disorders of mitochondrial long-chain fatty acid oxidation and the carnitine shuttle

    Knottnerus, S. J. G., Bleeker, J. C., Wüst, R. C. I., Ferdinandusse, S., IJlst, L., Wijburg, F. A., Wanders, R. J. A., Visser, G. & Houtkooper, R. H., 2018, In: Reviews in endocrine & metabolic disorders. 19, 1, p. 93-106

    Research output: Contribution to journalReview articleAcademicpeer-review

  8. 2017
  9. 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

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