Exome sequencing (ES) in the clinical setting of inborn metabolic diseases (IMDs) has
created tremendous improvement in achieving an accurate and timely molecular diagnosis …

Finding a diagnosis for patients with a rare inborn metabolic disorder can be a long and
difficult path. Whereas next generation sequencing is now a commonly used modality, which …

Untargeted liquid chromatography–mass spectrometry (LC–MS)-based metabolomics
strategies are being increasingly applied in metabolite screening for a wide variety of …

Infrared ion spectroscopy is increasingly recognized as a method to identify mass
spectrometry-detected analytes in many (bio) chemical areas and its integration in analytical …

Infrared ion spectroscopy (IRIS) can be used to identify molecular structures detected in
mass spectrometry (MS) experiments and has potential applications in a wide range of …

The nonenzymatic reaction between amino acids (AAs) and reducing sugars, also known as
the Maillard reaction, is the primary source of free glycation products (GPs) in vivo and in …

Inborn errors of metabolism (IEM) are inherited conditions caused by genetic defects in
enzymes or cofactors. These defects result in a specific metabolic fingerprint in patient body …

Infrared multiple photon dissociation (IRMPD) spectroscopy is a powerful tool used to probe
the vibrational modes–and, by extension, the structure—of an ion within an ion trap mass …

Glycation products produced by the non-enzymatic reaction between reducing
carbohydrates and amino compounds have received increasing attention in both food-and …

Infrared ion spectroscopy (IRIS) continues to see increasing use as an analytical tool for
small-molecule identification in conjunction with mass spectrometry (MS). The IR spectrum …