Review: Utility of mass spectrometry in rare disease research and diagnosis
Abstract Individuals affected by a rare disease often experience a long and arduous diagnostic odyssey. Delivery of genetic answers in a timely manner is critical to affected individuals and their families. Multi-omics, a term which usually encompasses genomics, transcriptomics, proteomics, metabolo...
Saved in:
| Main Authors: | Teresa Zhao, Daniella H. Hock, James Pitt, David R. Thorburn, David A. Stroud, John Christodoulou |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Nature Portfolio
2025-03-01
|
| Series: | npj Genomic Medicine |
| Online Access: | https://doi.org/10.1038/s41525-025-00487-3 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
A micro-costing study of mass-spectrometry based quantitative proteomics testing applied to the diagnostic pipeline of mitochondrial and other rare disorders
by: Francisco Santos Gonzalez, et al.
Published: (2024-11-01) -
Shinyscreen: mass spectrometry data inspection and quality checking utility
by: Todor Kondić, et al.
Published: (2025-06-01) -
Exploring the Siderophore Portfolio for Mass Spectrometry-Based Diagnosis of Scedosporiosis and Lomentosporiosis
by: Jiří Houšt’, et al.
Published: (2024-10-01) -
Mass Spectrometry Imaging: Revolutionizing Molecular Insights in Infectious Diseases Research
by: Minmin Zhang, et al.
Published: (2025-06-01) -
Democratizing mass spectrometry
by: Jeffrey Perkel
Published: (2016-04-01)