Overview
Development and application of mass spectrometry based biomarker assays for monitoring treatment and diagnosis of lysosomal storage diseases (LSDs).
Development and application of methods for analysis of drugs used in human clinical trials.
Application of "lab-on-a-chip" technology, based on digital microfluidics, to enzymatic and DNA- based assays used in newborn screening and at the point of care.
Development and application of new methods for studing clucose metabolism both in vivo and in vitro using stable isotope labeling with tandem mass spectrometry.
Development and application of methods for the analysis of urine markers of oxidative stress, using tandem mass spectrometry.
Current Appointments & Affiliations
Professor Emeritus of Pediatrics
·
2015 - Present
Pediatrics, Medical Genetics,
Pediatrics
Recent Publications
Quantification 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 CiteHow mass spectrometry revolutionized newborn screening.
Journal Article J Mass Spectrom Adv Clin Lab · April 2024 This article offers a personal account of a remarkable journey spanning over 30 years of applied mass spectrometry in a clinical setting. It begins with the author's inspiration from a clinician's story of rescuing a child from near death with a revolution ... Full text Link to item CiteA complementary approach: Metabolomics
Chapter · January 1, 2024 This chapter presents a brief overview of metabolomics, the history of its development, principles, and applications. The differences between targeted and untargeted metabolomics are explained, and the advantages and limitations of both approaches are disc ... Full text CiteRecent Grants
Gender and APOE genotype interact to alter immune regulated metabolism in AD
ResearchCo Investigator · Awarded by National Institutes of Health · 2019 - 2024Gastrin-Releasing Peptide and Bronchopulmonary Dysplasia
ResearchSignificant Contributor · Awarded by National Institutes of Health · 2011 - 2018Dietary therapy in mitochondrial trifunctional protein deficiency
ResearchConsultant · Awarded by Ultragenyx Pharmaceutical · 2014 - 2015View All Grants
Education, Training & Certifications
University of Liverpool (United Kingdom) ·
1969
Ph.D.