Last Updated: 09/26/2026
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Found 50 publications
Comprehensive metabolomics combined with machine learning for the identification of SARS-CoV-2 and other viruses directly from upper respiratory samples.
Journal: Journal of clinical microbiology
Published: October 09, 2025
Urine organic acid analysis as a tool in evaluation for Zellweger Spectrum disorder: A retrospective study.
Journal: Molecular genetics and metabolism
Published: June 25, 2025
The emerging role of metabolomics analysis in genetic and genomic testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 02, 2025
An encyclopedia of the cord blood metabolome reveals maternal-fetal interactions and disease risk.
Journal: Cell reports. Medicine
Published: October 29, 2024
Host-microbe co-metabolism via MCAD generates circulating metabolites including hippuric acid.
Journal: Nature communications
Published: October 30, 2022
Validation of a targeted metabolomics panel for improved second-tier newborn screening.
Journal: Journal of inherited metabolic disease
Published: October 21, 2022
MT-ATP6 mitochondrial disease identified by newborn screening reveals a distinct biochemical phenotype.
Journal: American journal of medical genetics. Part A
Published: October 11, 2022
Targeted plasma metabolomics combined with machine learning for the diagnosis of severe acute respiratory syndrome virus type 2.
Journal: Frontiers in microbiology
Published: October 01, 2022
A Phase 1 Study of Oral Vitamin D3 in Boys and Young Men With X-Linked Adrenoleukodystrophy.
Journal: Neurology. Genetics
Published: June 01, 2022
Metabolic diversity in human populations and correlation with genetic and ancestral geographic distances.
Journal: Molecular genetics and metabolism
Published: May 11, 2022
GlcNAc-Asn is a biomarker for NGLY1 deficiency.
Journal: Journal of biochemistry
Published: August 02, 2021
Last Updated: 09/26/2026