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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, Lulu Kang, Ruxuan He, Jinqing Song, Yi Liu, Chunyan Shi, Junya Chen, Hui Dong, Yao Zhang, Yanyan Ma, Tongfei Wu, Qiao Wang, Yuan Ding, Xiyuan Li, Dongxiao Li, Mengqiu Li, Ying Jin, Jiong Qin, Yanling Yang

published 31 Mar 2022

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Metabolic features of Gulf War illness

Robert K. Naviaux, Jane C. Naviaux, Kefeng Li, Lin Wang, Jonathan M. Monk, A. Taylor Bright, Hayley J. Koslik, Janis B. Ritchie, Beatrice A. Golomb

published 26 Jul 2019

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

Péter Monostori, Glynis Klinke, Jana Hauke, Sylvia Richter, Jörgen Bierau, Sven F. Garbade, Georg F. Hoffmann, Claus-Dieter Langhans, Dorothea Haas, Jürgen G. Okun

published 28 Feb 2019

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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, Cécile Pagan, Marie T. Vanier, Séverine Ruet, Philippe Latour, Nathalie Guffon, Alain Fouilhoux, Dominique P. Germain, Thierry Levade, Christine Vianey-Saban, Monique Piraud, David Cheillan

published 27 Jul 2017

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

Bruno Scarpelini, Michelle Zanoni, Maria Cecilia Araripe Sucupira, Hong-Ha M. Truong, Luiz Mario Ramos Janini, Ismael Dale Cotrin Segurado, Ricardo Sobhie Diaz

published 12 Dec 2016

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

Tess Pallister, Amy Jennings, Robert P. Mohney, Darioush Yarand, Massimo Mangino, Aedin Cassidy, Alexander MacGregor, Tim D. Spector, Cristina Menni

published 29 Jun 2016

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A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and Mucolipidoses

Eveline J. Langereis, Tom Wagemans, Wim Kulik, Dirk J. Lefeber, Henk van Lenthe, Esmee Oussoren, Ans T. van der Ploeg, George J. Ruijter, Ron A. Wevers, Frits A. Wijburg, Naomi van Vlies

published 25 Sep 2015

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Accurate, Fully-Automated NMR Spectral Profiling for Metabolomics

Siamak Ravanbakhsh, Philip Liu, Trent C. Bjordahl, Rupasri Mandal, Jason R. Grant, Michael Wilson, Roman Eisner, Igor Sinelnikov, Xiaoyu Hu, Claudio Luchinat, Russell Greiner, David S. Wishart

published 27 May 2015

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

Jasper Engel, Lionel Blanchet, Udo F. H. Engelke, Ron A. Wevers, Lutgarde M. C. Buydens

published 01 Apr 2014

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

Venkateswara R. Chintapalli, Mohammed Al Bratty, Dominika Korzekwa, David G. Watson, Julian A. T. Dow

published 29 Oct 2013

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

Nicolas Gauthier, Jiang Wei Wu, Shu Pei Wang, Pierre Allard, Orval A. Mamer, Lawrence Sweetman, Ann B. Moser, Lisa Kratz, Fernando Alvarez, Yves Robitaille, François Lépine, Grant A. Mitchell

published 05 Jul 2013

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Detailed Mitochondrial Phenotyping by High Resolution Metabolomics

James R. Roede, Youngja Park, Shuzhao Li, Frederick H. Strobel, Dean P. Jones

published 06 Mar 2012

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

Manuel Schiff, Jean-François Benoist, Sofiane Aïssaoui, Odile Boepsflug-Tanguy, Marie-Christine Mouren, Hélène Ogier de Baulny, Richard Delorme

published 07 Jul 2011

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