Fig. 3: Utility of proteomics and sample types used for studying rare diseases using MS from the published literature.
From: Review: Utility of mass spectrometry in rare disease research and diagnosis

A Uses of MS reported in rare disease research and diagnosis. B Different types of MS-based omic technologies are included in this review. C Different sample types used in rare disease studies. PBMC peripheral blood mononuclear cells, CSF cerebrospinal fluid, FFPE formalin-fixed paraffin-embedded.