Area of research
Clinical Biochemistry · Molecular Biology
Research interest
Research interests include Metabolism and Genetic Disorders, Mitochondrial Function and Pathology, Amino Acid Enzymes and Metabolism, and Genomics and Rare Diseases.
Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants
Significant Hepatic Involvement in Patients with Ornithine Transcarbamylase Deficiency
Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder
Newborn screening 50 years later: access issues faced by adults with PKU
Expanding research to provide an evidence base for nutritional interventions for the management of inborn errors of metabolism
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
Recommendations for the use of sapropterin in phenylketonuria