Area of research
Physiology · Clinical Biochemistry
Research interest
Research interests include Lysosomal Storage Disorders Research, Metabolism and Genetic Disorders, Mitochondrial Function and Pathology, and Glycogen Storage Diseases and Myoclonus.
Navigating the outcome maze: a scoping review of outcomes and instruments in clinical trials in genetic neurodevelopmental disorders and intellectual disability
Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy
Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy
Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency
Genotype‐phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry
Impact of newborn screening for very‐long‐chain acyl‐CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes
Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial
<i>EPG5</i> -related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy
Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency
Characterization of Early Disease Status in Treatment-Naive Male Paediatric Patients with Fabry Disease Enrolled in a Randomized Clinical Trial
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
Epidemiology and diagnosis of lysosomal storage disorders; challenges of screening
Longitudinal analysis of endurance and respiratory function from a natural history study of Morquio A syndrome
Disease and patient characteristics in NP-C patients: findings from an international disease registry
Cross‐sectional observational study of 208 patients with non‐classical urea cycle disorders
Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedure
Correction: Disease and patient characteristics in NP-C patients: findings from an international disease registry
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy
Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: Disease spectrum and natural course in attenuated patients
Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure