Area of research
Endocrinology, Diabetes and Metabolism · Genetics
Research interest
Research interests include Thyroid Disorders and Treatments, Growth Hormone and Insulin-like Growth Factors, Genetics and Neurodevelopmental Disorders, and Mitochondrial Function and Pathology.
Patients with Allan‐Herndon‐Dudley Syndrome (<scp>MCT8</scp> Deficiency) Display Symptoms of Parkinsonism in Childhood and Respond to Levodopa/Carbidopa Treatment
Novel Biallelic <scp> <i>SQSTM1</i> </scp> Mutation Causing a Subacute‐Onset Complex Movement Disorder with Oculomotor Abnormalities
Normal Values for the fT3/fT4 Ratio: Centile Charts (0–29 Years) and Their Application for the Differential Diagnosis of Children with Developmental Delay
Establishing Patient-Centered Outcomes for MCT8 Deficiency: Stakeholder Engagement and Systematic Literature Review
Pediatric de novo movement disorders and ataxia in the context of SARS-CoV-2
Movement disorders in MCT8 deficiency/Allan-Herndon-Dudley Syndrome
Human neuropathology confirms projection neuron and interneuron defects and delayed oligodendrocyte production and maturation in FOXG1 syndrome
Spatiotemporal Changes of Cerebral Monocarboxylate Transporter 8 Expression