Research interests

Molecular biology and molecular genetics of inborn errors of metabolism with focus on inborn errors of isoprenoid/cholesterol biosynthesis and peroxisomal defects.

specialisation

Molecular biology, metabolism, mouse model

Research output

  1. Sex-specific newborn screening for X-linked adrenoleukodystrophy

    Research output: Contribution to journalArticleAcademicpeer-review

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

    Research output: Contribution to journalArticleAcademicpeer-review

  3. Biochemical studies in fibroblasts to interpret variants of unknown significance in the abcd1 gene

    Research output: Contribution to journalArticleAcademicpeer-review

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