Research interests

Natural history, pathophysiology and treatment of lysosomal storage disorders

specialisation

Inherited Metabolic Diseases

Research output

  1. Adaptive pathway development for Fabry disease: a clinical approach

    Research output: Contribution to journalArticleAcademicpeer-review

  2. Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study

    Research output: Contribution to journalArticleAcademicpeer-review

  3. Hyperferritinemia and iron metabolism in Gaucher disease: Potential pathophysiological implications

    Research output: Contribution to journalReview articleAcademicpeer-review

  4. The clinical spectrum and pathophysiology of skeletal complications in lysosomal storage disorders

    Research output: Contribution to journalArticleAcademicpeer-review

  5. Post-authorisation assessment of orphan drugs

    Research output: Contribution to journalComment/Letter to the editorAcademic

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