other:
Metabolomic:Article Title: Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway
Article Snippet: All specimens were assessed by gas chromatography–mass spectrometry (GC-MS) using the Agilent 6890 Gas Chromatograph/5973 Mass Spectrometer to determine the concentration of 5 different polyols and a monosaccharide (arabitol, erythritol, ribitol, xylitol, galactitol, and sedoheptulose). .. Metabolomic profiling of plasma and urine was performed by Baylor Genetics Laboratories (Houston, TX) and Metabolon, Inc. (Durham, NC) as described previously ( Evans, DeHaven, Barrett, Mitchell, & Milgram, 2009 ; Ford L et al., 2020 ; Kennedy et al., 2016 ; Miller et al., 2015 ). .. Small molecules were extracted from 100 ul of sample in an 80% methanol solution, and samples were run on four independent platforms, each able to measure a different set of metabolites: (1) positive ionization with Waters BEH C18 chromatographic separation of hydrophilic compounds (LC/MS/MS Pos Polar), (2) positive ionization with Waters BEH C18 chromatographic separation of hydrophobic compounds (LC/MS/MS Pos Lipid), (3) negative ionization with Waters BEH C18 optimized conditions (LC/MS/MS Neg), and (4) negative ionization with Waters BEH Amide (HILIC) chromatography (LC/MS/MS Polar).
Article Title: RE: SPG7 p.A510V heterozygosity as a cause of adult-onset cerebellar ataxia without spasticity: longitudinal evidence from a sporadic case.
Article Snippet: LETTER TO THE EDITOR https://doi.org/10.1007/s10072-026-09100-6 Mayowa A. Osundiji osundiji.mayowa@mayo.edu 1 School of Science and Engineering, University of Dundee, Dundee, UK 2 Division of Genetics/Metabolics, McMaster University, Hamilton, ON, Canada 3 Department of Clinical Genomics, Mayo Clinic, 13400 East Shea Blvd, Scottsdale, AZ 85259, USA 4 Department of Neurology, Mayo Clinic, 13400 East Shea Blvd, Scottsdale, AZ 85259, USA Received: 21 December 2025 / Accepted: 4 May 2026 © Fondazione Società Italiana di Neurologia 2026 RE: SPG7 p.A510V heterozygosity as a cause of adult-onset cerebellar ataxia without spasticity: longitudinal evidence from a sporadic case
Article Title: Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway
Article Snippet: .. Global Metabolomic Profiling Metabolomic profiling of plasma and urine was performed by Baylor Genetics Laboratories (Houston, TX) and Metabolon, Inc. (Durham, NC) as described previously ( Evans, DeHaven, Barrett, Mitchell, & Milgram, 2009 ; Ford L et al., 2020 ; Kennedy et al., 2016 ; Miller et al., 2015 ). .. Small molecules were extracted from 100 ul of sample in an 80% methanol solution, and samples were run on four independent platforms, each able to measure a different set of metabolites: (1) positive ionization with Waters BEH C18 chromatographic separation of hydrophilic compounds (LC/MS/MS Pos Polar), (2) positive ionization with Waters BEH C18 chromatographic separation of hydrophobic compounds (LC/MS/MS Pos Lipid), (3) negative ionization with Waters BEH C18 optimized conditions (LC/MS/MS Neg), and (4) negative ionization with Waters BEH Amide (HILIC) chromatography (LC/MS/MS Polar).
Profiling:Article Title: Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway
Article Snippet: All specimens were assessed by gas chromatography–mass spectrometry (GC-MS) using the Agilent 6890 Gas Chromatograph/5973 Mass Spectrometer to determine the concentration of 5 different polyols and a monosaccharide (arabitol, erythritol, ribitol, xylitol, galactitol, and sedoheptulose). .. Metabolomic profiling of plasma and urine was performed by Baylor Genetics Laboratories (Houston, TX) and Metabolon, Inc. (Durham, NC) as described previously ( Evans, DeHaven, Barrett, Mitchell, & Milgram, 2009 ; Ford L et al., 2020 ; Kennedy et al., 2016 ; Miller et al., 2015 ). .. Small molecules were extracted from 100 ul of sample in an 80% methanol solution, and samples were run on four independent platforms, each able to measure a different set of metabolites: (1) positive ionization with Waters BEH C18 chromatographic separation of hydrophilic compounds (LC/MS/MS Pos Polar), (2) positive ionization with Waters BEH C18 chromatographic separation of hydrophobic compounds (LC/MS/MS Pos Lipid), (3) negative ionization with Waters BEH C18 optimized conditions (LC/MS/MS Neg), and (4) negative ionization with Waters BEH Amide (HILIC) chromatography (LC/MS/MS Polar).
Article Title: Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway
Article Snippet: .. Global Metabolomic Profiling Metabolomic profiling of plasma and urine was performed by Baylor Genetics Laboratories (Houston, TX) and Metabolon, Inc. (Durham, NC) as described previously ( Evans, DeHaven, Barrett, Mitchell, & Milgram, 2009 ; Ford L et al., 2020 ; Kennedy et al., 2016 ; Miller et al., 2015 ). .. Small molecules were extracted from 100 ul of sample in an 80% methanol solution, and samples were run on four independent platforms, each able to measure a different set of metabolites: (1) positive ionization with Waters BEH C18 chromatographic separation of hydrophilic compounds (LC/MS/MS Pos Polar), (2) positive ionization with Waters BEH C18 chromatographic separation of hydrophobic compounds (LC/MS/MS Pos Lipid), (3) negative ionization with Waters BEH C18 optimized conditions (LC/MS/MS Neg), and (4) negative ionization with Waters BEH Amide (HILIC) chromatography (LC/MS/MS Polar).
Clinical Proteomics:Article Title: Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway
Article Snippet: All specimens were assessed by gas chromatography–mass spectrometry (GC-MS) using the Agilent 6890 Gas Chromatograph/5973 Mass Spectrometer to determine the concentration of 5 different polyols and a monosaccharide (arabitol, erythritol, ribitol, xylitol, galactitol, and sedoheptulose). .. Metabolomic profiling of plasma and urine was performed by Baylor Genetics Laboratories (Houston, TX) and Metabolon, Inc. (Durham, NC) as described previously ( Evans, DeHaven, Barrett, Mitchell, & Milgram, 2009 ; Ford L et al., 2020 ; Kennedy et al., 2016 ; Miller et al., 2015 ). .. Small molecules were extracted from 100 ul of sample in an 80% methanol solution, and samples were run on four independent platforms, each able to measure a different set of metabolites: (1) positive ionization with Waters BEH C18 chromatographic separation of hydrophilic compounds (LC/MS/MS Pos Polar), (2) positive ionization with Waters BEH C18 chromatographic separation of hydrophobic compounds (LC/MS/MS Pos Lipid), (3) negative ionization with Waters BEH C18 optimized conditions (LC/MS/MS Neg), and (4) negative ionization with Waters BEH Amide (HILIC) chromatography (LC/MS/MS Polar).
Article Title: Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway
Article Snippet: .. Global Metabolomic Profiling Metabolomic profiling of plasma and urine was performed by Baylor Genetics Laboratories (Houston, TX) and Metabolon, Inc. (Durham, NC) as described previously ( Evans, DeHaven, Barrett, Mitchell, & Milgram, 2009 ; Ford L et al., 2020 ; Kennedy et al., 2016 ; Miller et al., 2015 ). .. Small molecules were extracted from 100 ul of sample in an 80% methanol solution, and samples were run on four independent platforms, each able to measure a different set of metabolites: (1) positive ionization with Waters BEH C18 chromatographic separation of hydrophilic compounds (LC/MS/MS Pos Polar), (2) positive ionization with Waters BEH C18 chromatographic separation of hydrophobic compounds (LC/MS/MS Pos Lipid), (3) negative ionization with Waters BEH C18 optimized conditions (LC/MS/MS Neg), and (4) negative ionization with Waters BEH Amide (HILIC) chromatography (LC/MS/MS Polar).
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