Area of research
Clinical Biochemistry · Genetics
Research interest
Research focused on Urea cycle and Phenylbutyrate, with related work in Genetics, Mucopolysaccharidosis, Hypotonia. Notable publications include 'Clinical course of sly syndrome (mucopolysaccharidosis type VII)', 'Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome', and 'Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate'.
Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially
Clinical course of sly syndrome (mucopolysaccharidosis type VII)
Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome
Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder
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