Area of research
Physiology · Hematology
Research interest
Research focused on Disease and type C, with related work in Acid sphingomyelinase, Sphingomyelin, Pediatrics. Notable publications include 'Consensus clinical management guidelines for Niemann-Pick disease type C', 'Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and...', and 'Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials'.
Long‐term survival outcomes of patients with <scp>Niemann‐Pick</scp> disease type C receiving miglustat treatment: A large retrospective observational study
Consensus clinical management guidelines for Niemann-Pick disease type C
Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials
Corrigendum to “Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases” [Mol. Genet. Metab. 118 (2016) 206–213]
Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases
A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C)
Altered distribution and function of natural killer cells in murine and human Niemann-Pick disease type C1