Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism

Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

(2020) KimberlyA. Kripps et al.   MOLECULAR GENETICS AND METABOLISM

Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis

(2020) Joseph T. Alaimo et al.   GENETICS IN MEDICINE

Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway

(2020) Brian J. Shayota et al.   MOLECULAR GENETICS AND METABOLISM

Clinical Validation of Targeted and Untargeted Metabolomics Testing for Genetic Disorders: A 3 Year Comparative Study

(2020) Naif A. M. Almontashiri et al.   Scientific Reports

Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disorders

(2019) Lindsay C. Burrage et al.   GENETICS IN MEDICINE

2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis

(2019) Adam D. Kennedy et al.   Frontiers in Neuroscience

Untargeted Metabolomics-Based Screening Method for Inborn Errors of Metabolism using Semi-Automatic Sample Preparation with an UHPLC- Orbitrap-MS Platform

(2019) Ramon Bonte et al.   Metabolites

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(2018)   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers

(2018) Michael F Wangler et al.   GENETICS IN MEDICINE

The phenotype of adult versus pediatric patients with inborn errors of metabolism

(2018) Jean-Marie Saudubray et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Fast and accurate quantitative organic acid analysis with LC-QTOF/MS facilitates screening of patients for inborn errors of metabolism

(2018) Irene M. L. W. Körver-Keularts et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients

(2018) Karlien L. M. Coene et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling

(2018) Kevin E. Glinton et al.   MOLECULAR GENETICS AND METABOLISM

Inborn Errors of Metabolism Overview

(2018) Jean-Marie Saudubray et al.   PEDIATRIC CLINICS OF NORTH AMERICA

Metabolomics in the Clinic: A Review of the Shared and Unique Features of Untargeted Metabolomics for Clinical Research and Clinical Testing

(2018) Adam D. Kennedy et al.   JOURNAL OF MASS SPECTROMETRY

Abnormal Glycerol Metabolism in a Child with Global Developmental Delay, Adrenal Insufficiency, and Intellectual Disability

(2018) Naif A.M. Almontashiri et al.   CLINICAL CHEMISTRY

Analyses of SLC13A5 -epilepsy patients reveal perturbations of TCA cycle

(2017) Matthew N. Bainbridge et al.   MOLECULAR GENETICS AND METABOLISM

Clinical Metabolomics to Segregate Aromatic Amino Acid Decarboxylase Deficiency From Drug-Induced Metabolite Elevations

(2017) Kirk L. Pappan et al.   PEDIATRIC NEUROLOGY

Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet

(2017) Gerarda Cappuccio et al.   PLoS One

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

(2015) Marcus J. Miller et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Aromatic l-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasma

(2015) Paldeep S. Atwal et al.   MOLECULAR GENETICS AND METABOLISM

Comprehensive Evaluation of the Child With Intellectual Disability or Global Developmental Delays

(2014) J. B. Moeschler et al.   PEDIATRICS

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