Area of research
Clinical Biochemistry · Genetics
Research interest
Research interests include Medicine, Urea cycle, Intensive care medicine, Phenylbutyrate, Phenotype, and Genetics.
Long-term Burosumab Administration Is Safe and Effective in Adults With X-linked Hypophosphatemia
A Framework for Evaluation of the Higher-Risk Infant After a Brief Resolved Unexplained Event
Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients
Defining the phenotypic spectrum of <i>SLC6A1</i> mutations
Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder
Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders