skip to main content
US FlagAn official website of the United States government
dot gov icon
Official websites use .gov
A .gov website belongs to an official government organization in the United States.
https lock icon
Secure .gov websites use HTTPS
A lock ( lock ) or https:// means you've safely connected to the .gov website. Share sensitive information only on official, secure websites.


Search for: All records

Creators/Authors contains: "Truax, Michael"

Note: When clicking on a Digital Object Identifier (DOI) number, you will be taken to an external site maintained by the publisher. Some full text articles may not yet be available without a charge during the embargo (administrative interval).
What is a DOI Number?

Some links on this page may take you to non-federal websites. Their policies may differ from this site.

  1. Fabry disease (FD) is a rare disorder resulting from a genetic mutation characterized by the accumulation of sphingolipids in various cells throughout the human body, leading to progressive and irreversible organ damage, particularly in males. Genetically-determined deficiency or reduced activity of the enzyme (alpha – Galactosidase; α-Gal) leads to the accumulation of sphingolipids in the lysosomes of various cell types, including the heart, kidneys, skin, eyes, central nervous system, and digestive system, triggering damage, leading to the failure of vital organs, and resulting in progressive disability and premature death. FD diagnostics currently depend on costly and time-intensive genetic tests and enzymatic analysis, often leading to delayed or inaccurate diagnoses, which contribute to rapid disease progression. In this research, midinfrared Fiber Evanescent Wave Spectroscopy (FEWS) supported by statistical analysis and Machine Learning (ML) algorithms is shown to be an innovative and reliable method to detect globotriaosylsphingosine (Lyso-Gb3) FD biomarker in urine and serum samples by monitoring infrared spectra alone. ML showed a high selectivity for FD in the spectral range of Amide A and Amide I in blood serum, and α-D-galactosyl residues of glycosphingolipids in urine. The developed approach offers a promising, cost-effective express diagnostic tool sensitive enough for early FD detection and monitoring. 
    more » « less
    Free, publicly-accessible full text available April 1, 2026