Τίτλος:
NMR studies of inborn errors of metabolism
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Inborn errors of metabolism (IEM) are genetic inherited diseases resulting in an abnormal metabolic phenotype. NMR spectroscopy captures the metabolic profile in a rapid and extremely highly reproducible and holistic way, detecting both known and unknown metabolites simultaneously over an extended concentration range. Application of NMR as a method for IEM diagnosis is discussed in terms of body fluid sample collection and treatment, detection methods, and data treatment. Such diagnoses then allow targeted therapies or dietary interventions. Examples are provided for selected cases and novel applications. © 2015 John Wiley & Sons, Ltd.
Συγγραφείς:
Kostidis, S.
Mikros, E.
Εκδότης:
Wiley-Blackwell Publishing Ltd
Λέξεις-κλειδιά:
Diagnosis; Errors; Metabolism; Nuclear magnetic resonance spectroscopy; Physiology, Body fluid NMR; Inborn errors of metabolisms; Inherited disease; Metabolic phenotype; Metabonomics; Newborn screening; NMR studies; NMR-spectroscopy; Organic aciduria; Organics, Body fluids
DOI:
10.1002/9780470034590.emrstm1400
