Area of research
Genetics · Clinical Biochemistry
Research interest
Research interests include Metabolism and Genetic Disorders, Genetic Syndromes and Imprinting, Genetics and Neurodevelopmental Disorders, and Neonatal Health and Biochemistry.
Diazoxide Choline Extended-Release Tablet in People With Prader-Willi Syndrome: A Double-Blind, Placebo-Controlled Trial
Intranasal Carbetocin Reduces Hyperphagia, Anxiousness, and Distress in Prader-Willi Syndrome: CARE-PWS Phase 3 Trial
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire
Automated syndrome diagnosis by three-dimensional facial imaging
Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders
Rare <i>SUZ12</i> variants commonly cause an overgrowth phenotype
Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency
Acute liver failure in neonates with undiagnosed hereditary fructose intolerance due to exposure from widely available infant formulas
Effects of <scp>MetAP2</scp> inhibition on hyperphagia and body weight in Prader–Willi syndrome: A randomized, double‐blind, placebo‐controlled trial
Newborn Screening for Lysosomal Storage Disorders: Views of Genetic Healthcare Providers
Glutamine and hyperammonemic crises in patients with urea cycle disorders
Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder
Treatment-related signs and symptoms among patients with urea cycle disorders (UCDs) during treatment with sodium phenylbutyrate and glycerol phenylbutyrate
Ammonia Control in Children Ages 2 Months through 5 Years with Urea Cycle Disorders: Comparison of Sodium Phenylbutyrate and Glycerol Phenylbutyrate
Elevated phenylacetic acid levels do not correlate with adverse events in patients with urea cycle disorders or hepatic encephalopathy and can be predicted based on the plasma PAA to PAGN ratio
Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate
Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders