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

Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism

(2017) Jessica J Y Lee et al.   GENETICS IN MEDICINE

Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity

(2017) Marisa I Mendes et al.   HUMAN MUTATION

Tailored liquid chromatography–mass spectrometry analysis improves the coverage of the intracellular metabolome of HepaRG cells

(2017) Matthias Cuykx et al.   JOURNAL OF CHROMATOGRAPHY A

Structural elucidation of novel biomarkers of known metabolic disorders based on multistage fragmentation mass spectra

(2017) Jan Václavík et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Metabolic phenotyping of mucopolysaccharidoses using untargeted liquid chromatography ion mobility mass spectrometry-based strategy

(2017) Abdellah Tebani et al.   MOLECULAR GENETICS AND METABOLISM

Whole-genome sequencing identifies common-to-rare variants associated with human blood metabolites

(2017) Tao Long et al.   NATURE GENETICS

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

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

Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency

(2017) Lucia Abela et al.   PLoS One

Molecular identification in metabolomics using infrared ion spectroscopy

(2017) Jonathan Martens et al.   Scientific Reports

ReconMap: an interactive visualization of human metabolism

(2016) Alberto Noronha et al.   BIOINFORMATICS

NANS-mediated synthesis of sialic acid is required for brain and skeletal development

(2016) Clara D M van Karnebeek et al.   NATURE GENETICS

Metabolomics: beyond biomarkers and towards mechanisms

(2016) Caroline H. Johnson et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Exome Sequencing and the Management of Neurometabolic Disorders

(2016) Maja Tarailo-Graovac et al.   NEW ENGLAND JOURNAL OF MEDICINE

KEGG: new perspectives on genomes, pathways, diseases and drugs

(2016) Minoru Kanehisa et al.   NUCLEIC ACIDS RESEARCH

An exome array study of the plasma metabolome

(2016) Eugene P. Rhee et al.   Nature Communications

N8-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics

(2015) Lucia Abela et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

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

Plasma metabolomic profiles enhance precision medicine for volunteers of normal health

(2015) Lining Guo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Untargeted urine metabolomics reveals a biosignature for muscle respiratory chain deficiencies

(2014) Leonie Venter et al.   Metabolomics

Towards the Disease Biomarker in an Individual Patient Using Statistical Health Monitoring

(2014) Jasper Engel et al.   PLoS One

Organic acid profile of isovaleric acidemia: a comprehensive metabolomics approach

(2013) Marli Dercksen et al.   Metabolomics

NMR-based metabolomics in human disease diagnosis: applications, limitations, and recommendations

(2013) Abdul-Hamid M. Emwas et al.   Metabolomics

A community-driven global reconstruction of human metabolism

(2013) Ines Thiele et al.   NATURE BIOTECHNOLOGY

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

Disease gene identification strategies for exome sequencing

(2012) Christian Gilissen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Disclosure of a putative biosignature for respiratory chain disorders through a metabolomics approach

(2012) Izelle Smuts et al.   Metabolomics

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

On the future of “omics”: lipidomics

(2011) William J. Griffiths et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Urine metabolomics reveals novel physiologic functions of human aldehyde oxidase and provides biomarkers for typing xanthinuria

(2011) Hava Peretz et al.   Metabolomics

Procedures for large-scale metabolic profiling of serum and plasma using gas chromatography and liquid chromatography coupled to mass spectrometry

(2011) Warwick B Dunn et al.   Nature Protocols