Overview
Current Appointments & Affiliations
Professor of Pediatrics
·
2021 - Present
Pediatrics, Medical Genetics,
Pediatrics
Recent Publications
Sex differences in mitochondrial free-carnitine levels in subjects at-risk and with Alzheimer's disease in two independent study cohorts.
Journal Article Mol Psychiatry · June 2025 A major challenge in the development of more effective therapeutic strategies for Alzheimer's disease (AD) is the identification of molecular mechanisms linked to specific pathophysiological features of the disease. Importantly AD has a two-fold higher inc ... Full text Link to item CitePersistent elevations of alkaline phosphatase as an early indicator of GM1 gangliosidosis.
Journal Article Mol Genet Metab Rep · March 2025 GLB1-related disorders are autosomal recessive lysosomal diseases caused by enzymatic deficiency of β-galactosidase. Enzymatic deficiency of β-galactosidase may lead to one of two phenotypes, GM1 gangliosidosis or mucopolysaccharidosis IVB (MPS IVB). GM1 g ... Full text Open Access Link to item CiteQuantification of Glycosaminoglycans in Urine by Isotope Dilution Liquid Chromatography-Electrospray Ionization Tandem Mass Spectrometry.
Journal Article Curr Protoc · February 2025 Mucopolysaccharidoses (MPSs) are complex lysosomal diseases that result in the accumulation of glycosaminoglycans (GAGs) in urine, blood, and tissues. Lysosomal enzymes responsible for GAG degradation are defective in MPSs. GAGs including chondroitin sulfa ... Full text Link to item CiteRecent Grants
Phase 1 Study of In Utero Enzyme Replacement Therapy for the Treatment of Lysosomal Storage Diseases
ResearchInvestigator · Awarded by University of California - San Francisco · 2022 - 2026Combination Gene Therapy for Treatment of Canine Mucopolysaccharidosis Type I
ResearchPrincipal Investigator · Awarded by Childrens Hospital of Orange County · 2023 - 2026Biomarker studies in plasma from patients with Gaucher disease
ResearchCo Investigator · Awarded by Shire Human Genetics Therapies · 2018 - 2025View All Grants
Education, Training & Certifications
American Board of Medical Genetics and Genomics ·
2016
C.
University College London (United Kingdom) ·
1997
Ph.D.