Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism

Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life

(2014) Julien Thevenon et al.   AMERICAN JOURNAL OF HUMAN GENETICS

An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1

(2013) Hung-Chun Yu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Intestinal microbiota metabolism of l-carnitine, a nutrient in red meat, promotes atherosclerosis

(2013) Robert A Koeth et al.   NATURE MEDICINE

Identification of Altered Metabolic Pathways in Plasma and CSF in Mild Cognitive Impairment and Alzheimer’s Disease Using Metabolomics

(2013) Eugenia Trushina et al.   PLoS One

Metabonomics of Newborn Screening Dried Blood Spot Samples: A Novel Approach in the Screening and Diagnostics of Inborn Errors of Metabolism

(2012) Júlia Dénes et al.   ANALYTICAL CHEMISTRY

Targeted metabolomic analysis of plasma samples for the diagnosis of inherited metabolic disorders

(2011) Hana Janečková et al.   JOURNAL OF CHROMATOGRAPHY A

The Human Serum Metabolome

(2011) Nikolaos Psychogios et al.   PLoS One

Organization of GC/MS and LC/MS metabolomics data into chemical libraries

(2010) Corey D DeHaven et al.   Journal of Cheminformatics

Integrated, Nontargeted Ultrahigh Performance Liquid Chromatography/Electrospray Ionization Tandem Mass Spectrometry Platform for the Identification and Relative Quantification of the Small-Molecule Complement of Biological Systems

(2009) Anne M. Evans et al.   ANALYTICAL CHEMISTRY

Mass spectrometry for the identification of the discriminating signals from metabolomics: Current status and future trends

(2008) Erwan Werner et al.   JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES

Garrod’s Croonian Lectures (1908) and the charter ‘Inborn Errors of Metabolism’: Albinism, alkaptonuria, cystinuria, and pentosuria at age 100 in 2008

(2008) Charles R. Scriver   JOURNAL OF INHERITED METABOLIC DISEASE