Area of research
Clinical Biochemistry · Genetics
Research interest
Research interests include Metabolism and Genetic Disorders, Genomics and Rare Diseases, BRCA gene mutations in cancer, and Folate and B Vitamins Research.
Efficacy and safety of pegzilarginase in arginase 1 deficiency (PEACE): a phase 3, randomized, double-blind, placebo-controlled, multi-centre trial
Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results.
The role and control of arginine levels in arginase 1 deficiency
Health insurance literacy and health services access barriers in Niemann-Pick disease: the patient and caregiver voice.
Health care resource utilization in the management of patients with Arginase 1 Deficiency in the US: a retrospective, observational, claims database study.
One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency.
Clinical effect and safety profile of pegzilarginase in patients with arginase 1 deficiency.
Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients
Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6
Institutional Profile: Translational Pharmacogenomics at the Icahn School of Medicine at Mount Sinai
Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases
A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects
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