Research interests

  • Genetic and congenital disorders of the nervous system.
  • Neurometabolic, peroxisomal disorders.

specialisation

Pediatric Neurology

Research output

  1. Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood

    Research output: Contribution to journalArticleAcademicpeer-review

  2. X-linked adrenoleukodystrophy in women: a cross-sectional cohort study

    Research output: Contribution to journalArticleAcademicpeer-review

  3. The neurology of rhizomelic chondrodysplasia punctata

    Research output: Contribution to journalArticleAcademicpeer-review

  4. Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

    Research output: Contribution to journalArticleAcademicpeer-review

  5. Lovastatin in X-Linked Adrenoleukodystrophy

    Research output: Contribution to journalComment/Letter to the editorAcademic

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