This disclosure relates to methods of diagnosing and treating a copper metabolism-associated disease or disorder, such as Wilson disease (WD).

Methods for measuring disialylated Fc glycan in a biological sample are described.

A method for the identification and localization of small molecule species in a histologic thin tissue section comprises the steps of: a) acquiring a mass/mobility image of the tissue section and generating a mass/mobility map of the small molecule species of interest for each pixel of the image; b) providing a second sample of the same tissue and extracting the small molecules of interest, separating them, and acquiring mass and ion mobility spectra from the separated small molecules; c) identifying the small molecules of interest using corresponding reference databases; and d) assigning identified small molecules to entries in the mass/mobility maps of the first tissue section by comparison of ion masses and mobilities of the identified species to those of the second thin tissue section.

The invention relates to a method of diagnosing or screening for 27-hydroxylase (CYP27A1) deficiency in an animal comprising: determining in a biological sample the intensity signal by mass analysis of at least a bile alcohol glucuronide and a C24- or C27-bile acid or a conjugate thereof, comparing the intensity signals to a control sample or control value, and determining 27-hydroxylase (CYP27A1) deficiency based on said comparison.

This disclosure relates to the field of mass spectrometry analysis. In some embodiments, the disclosure relates to methods for detecting and quantifying proteins by enrichment followed by mass spectrometry analysis.

The present invention provides methods for diagnosing an autistic spectrum disorder (ASD), comprising detecting the concentration of an amino acid adduct in a sample obtained from a subject, wherein said amino acid adduct is a glycated amino acid adduct, an oxidised amino acid adduct, or a nitrated amino acid adduct. Methods of the invention further comprise comparing the concentration of the amino acid adduct in the sample with the concentration of the same amino acid adduct in a reference standard; and identifying the presence or absence of a concentration difference of said amino acid adduct in the sample relative to the reference standard; wherein the presence or absence of a concentration difference correlates with the presence or absence of ASD. Diagnostic algorithms for use in methods of the invention are also provided.

Methods and devices are provided for assessing biological samples using molecular analysis. In certain aspects, methods and devices of the embodiments allow for the collection of liquid tissue samples and delivery of the samples for mass spectrometry. In certain aspects, the results of the mass spectrometry can be analyzed to determine tissue type, sample quality, or disease state of the sample.

The invention generally relates to methods for determining whether a peptide includes aspartate or isoaspartate. In certain aspects, methods of the invention involve binding an aspartate/isoaspartate residue in a peptide with a label to produce a labeled peptide. The labeled peptide is then ionized. The ionizing process causes the label to undergo rearrangement in a gas phase at a higher rate if the label is bound to the aspartate residue as compared to if the label is bound to the isoaspartate residue. The methods of the invention then involve performing a mass spectrometry analysis to detect the rearrangement of the label, thereby determining whether the peptide includes aspartate or isoaspartate.

Methods for achieving complete sequence coverage of monoclonal antibodies by trypsin digestion and dual-column LC-MS system are provided. The disclosed method improves upon current techniques for standard peptide mapping.

The present invention provides a method for detecting a monoclonal antibody in a sample, comprising: (a) a step of capturing the monoclonal antibody in the sample and immobilizing the monoclonal antibody in pores of a porous body; (b) a step of bringing the porous body in which the monoclonal antibody is immobilized with nanoparticles on which protease is immobilized to conduct selective protease digestion of the monoclonal antibody; and (c) a step of detecting, by a liquid chromatography mass spectrometry (LC-MS), peptide fragments obtained by the selective protease digestion, wherein the selective protease digestion of step (b) is conducted at pH 8 to 9 in the presence of a chaotropic reagent and a reducing agent.