Area of research
Clinical Biochemistry · Molecular Biology
Research interest
Research interests include Metabolism and Genetic Disorders, Mitochondrial Function and Pathology, Folate and B Vitamins Research, and Genomics and Rare Diseases.
Urine organic acid analysis as a tool in evaluation for Zellweger Spectrum disorder: A retrospective study
Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy
Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy
Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency
Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study
Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California
An overview of combined D‐2‐ and L‐2‐hydroxyglutaric aciduria: functional analysis of CIC variants
Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency
Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients
Mudd’s disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes
Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics
Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan
Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California