Area of research
Clinical Biochemistry · Physiology
Research interest
Research interests include Metabolism and Genetic Disorders, Lysosomal Storage Disorders Research, Mitochondrial Function and Pathology, and Glycogen Storage Diseases and Myoclonus.
Long-term efficacy and safety of arimoclomol in Niemann-Pick disease type C: Final results of the phase 2/3 NPC-002 48-month open-label extension trial
Assessment of the reliability, responsiveness, and meaningfulness of the scale for the assessment and rating of ataxia (SARA) for lysosomal storage disorders
The natural history of classic galactosemia: lessons from the GalNet registry
Epidemiology of mucopolysaccharidoses
Fertility in adult women with classic galactosemia and primary ovarian insufficiency
International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow‐up
Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD)
Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice
Cross‐sectional observational study of 208 patients with non‐classical urea cycle disorders