Advertisement

Browse Subject Areas

?

Click through the PLOS taxonomy to find articles in your field.

For more information about PLOS Subject Areas, click here.

Inborn errors of metabolism

Comparing amniotic fluid mass spectrometry assays and amniocyte gene analyses for the prenatal diagnosis of methylmalonic aciduria

Yupeng Liu, Zhehui Chen, [ ... ], Yanling Yang

Metabolic features of Gulf War illness

Robert K. Naviaux, Jane C. Naviaux, [ ... ], Beatrice A. Golomb

Extended diagnosis of purine and pyrimidine disorders from urine: LC MS/MS assay development and clinical validation

Péter Monostori, Glynis Klinke, [ ... ], Jürgen G. Okun

LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease

Magali Pettazzoni, Roseline Froissart, [ ... ], David Cheillan

Plasma Metabolomics Biosignature According to HIV Stage of Infection, Pace of Disease Progression, Viremia Level and Immunological Response to Treatment

Bruno Scarpelini, Michelle Zanoni, [ ... ], Ricardo Sobhie Diaz

Characterizing Blood Metabolomics Profiles Associated with Self-Reported Food Intakes in Female Twins

Tess Pallister, Amy Jennings, [ ... ], Cristina Menni

A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and Mucolipidoses

Eveline J. Langereis, Tom Wagemans, [ ... ], Naomi van Vlies

Accurate, Fully-Automated NMR Spectral Profiling for Metabolomics

Siamak Ravanbakhsh, Philip Liu, [ ... ], David S. Wishart

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

Jasper Engel, Lionel Blanchet, [ ... ], Lutgarde M. C. Buydens

Mapping an Atlas of Tissue-Specific Drosophila melanogaster Metabolomes by High Resolution Mass Spectrometry

Venkateswara R. Chintapalli, Mohammed Al Bratty, [ ... ], Julian A. T. Dow

A Liver-Specific Defect of Acyl-CoA Degradation Produces Hyperammonemia, Hypoglycemia and a Distinct Hepatic Acyl-CoA Pattern

Nicolas Gauthier, Jiang Wei Wu, [ ... ], Grant A. Mitchell

Detailed Mitochondrial Phenotyping by High Resolution Metabolomics

James R. Roede, Youngja Park, [ ... ], Dean P. Jones

Should Metabolic Diseases Be Systematically Screened in Nonsyndromic Autism Spectrum Disorders?

Manuel Schiff, Jean-François Benoist, [ ... ], Richard Delorme

Advertisement

Create a weekly email alert for: Inborn errors of metabolism

You can change these options by clicking profile then "Alerts and Notifications"