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A micro-costing study of mass-spectrometry based quantitative proteomics testing applied to the diagnostic pipeline of mitochondrial and other rare disorders

Abstract Background Mass spectrometry-based quantitative proteomics has a demonstrated utility in increasing the diagnostic yield of mitochondrial disorders (MDs) and other rare diseases. However, for this technology to be widely adopted in routine clinical practice, it is crucial to accurately esti...

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Principais autores: Francisco Santos Gonzalez, Daniella H. Hock, David R. Thorburn, Dylan Mordaunt, Nicholas A. Williamson, Ching-Seng Ang, David A. Stroud, John Christodoulou, Ilias Goranitis
Format: Artigo
Sprog:Inglês
Udgivet: BMC 2024-11-01
Serier:Orphanet Journal of Rare Diseases
Fag:
Proteomics
Mitochondrial disorders
Micro-costing
Functional genomics
Health economics
Online adgang:https://doi.org/10.1186/s13023-024-03462-w
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