4.8 Article

Metabolite Identification Using Infrared Ion Spectroscopy-Novel Biomarkers for Pyridoxine-Dependent Epilepsy

Related references

Note: Only part of the references are listed.
Article Biology

Amadori rearrangement products as potential biomarkers for inborn errors of amino-acid metabolism

Rianne E. van Outersterp et al.

Summary: The identification of disease biomarkers is crucial for diagnosing inborn errors of metabolism and understanding their pathophysiology. Research has found a class of Amadori rearrangement products that may serve as potential biomarkers for certain metabolic disorders.

COMMUNICATIONS BIOLOGY (2021)

Article Medicine, Research & Experimental

Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy

Udo F. H. Engelke et al.

Summary: This study identified a potential biomarker for PDE-ALDH7A1 newborn screening and confirmed its suitability in dried bloodspots. The biomarker was found to accumulate in brain tissue of patients and induce epilepsy-like behavior in a zebrafish model system.

JOURNAL OF CLINICAL INVESTIGATION (2021)

Article Multidisciplinary Sciences

2-Methyl-pentanoyl-carnitine (2-MPC): a urine biomarker for patent Ascaris lumbricoides infection

Ole Lagatie et al.

SCIENTIFIC REPORTS (2020)

Article Endocrinology & Metabolism

New insights into human lysine degradation pathways with relevance to pyridoxine-dependent epilepsy due to antiquitin deficiency

Lisa M. Crowther et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2019)

Article Physics, Atomic, Molecular & Chemical

Reference-standard free metabolite identification using infrared ion spectroscopy

Rianne E. van Outersterp et al.

INTERNATIONAL JOURNAL OF MASS SPECTROMETRY (2019)

Article Engineering, Environmental

Infrared Ion Spectroscopy of Environmental Organic Mixtures: Probing the Composition of α-Pinene Secondary Organic Aerosol

Emma Q. Walhout et al.

ENVIRONMENTAL SCIENCE & TECHNOLOGY (2019)

Article Physics, Atomic, Molecular & Chemical

IR ion spectroscopy in a combined approach with MS/MS and IM-MS to discriminate epimeric anthocyanin glycosides (cyanidin 3-O-glucoside and -galactoside)

Davide Corinti et al.

INTERNATIONAL JOURNAL OF MASS SPECTROMETRY (2019)

Article Biochemistry & Molecular Biology

HMDB 4.0: the human metabolome database for 2018

David S. Wishart et al.

NUCLEIC ACIDS RESEARCH (2018)

Article Chemistry, Analytical

Infrared ion spectroscopy: an analytical tool for the study of metabolites

Adam P. Cismesia et al.

ANALYST (2018)

Article Endocrinology & Metabolism

Unraveling the unknown areas of the human metabolome: the role of infrared ion spectroscopy

Jonathan Martens et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2018)

Article Endocrinology & Metabolism

The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: a common epileptic encephalopathy

Curtis R. Coughlin et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2018)

Article Chemistry, Analytical

Biomarker Profiling for Pyridoxine Dependent Epilepsy in Dried Blood Spots by HILIC-ESI-MS

Elizabeth Mary Mathew et al.

INTERNATIONAL JOURNAL OF ANALYTICAL CHEMISTRY (2018)

Article Biochemical Research Methods

Identification and Partial Structural Characterization of Mass Isolated Valsartan and Its Metabolite with Messenger Tagging Vibrational Spectroscopy

Olga Gorlova et al.

JOURNAL OF THE AMERICAN SOCIETY FOR MASS SPECTROMETRY (2017)

Article Multidisciplinary Sciences

Molecular identification in metabolomics using infrared ion spectroscopy

Jonathan Martens et al.

SCIENTIFIC REPORTS (2017)

Article Biochemical Research Methods

A novel method for simultaneous quantification of alpha-aminoadipic semialdehyde/piperideine-6-carboxylate and pipecolic acid in plasma and urine

Tatiana Yuzyuk et al.

JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES (2016)

Article Biochemical Research Methods

Making Mass Spectrometry See the Light: The Promises and Challenges of Cryogenic Infrared Ion Spectroscopy as a Bioanalytical Technique

Adam P. Cismesia et al.

JOURNAL OF THE AMERICAN SOCIETY FOR MASS SPECTROMETRY (2016)

Review Clinical Neurology

Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum

Clara D. M. van Karnebeek et al.

PEDIATRIC NEUROLOGY (2016)

Article Instruments & Instrumentation

Infrared ion spectroscopy in a modified quadrupole ion trap mass spectrometer at the FELIX free electron laser laboratory

Jonathan Martens et al.

REVIEW OF SCIENTIFIC INSTRUMENTS (2016)

Review Chemistry, Analytical

Computational mass spectrometry for small-molecule fragmentation

Franziska Hufsky et al.

TRAC-TRENDS IN ANALYTICAL CHEMISTRY (2014)

Article Endocrinology & Metabolism

Preliminary investigation of the use of newborn dried blood spots for screening pyridoxine-dependent epilepsy by LC-MS/MS

Sunhee Jung et al.

MOLECULAR GENETICS AND METABOLISM (2013)

Article Endocrinology & Metabolism

Mass appeal: metabolite identification in mass spectrometry-focused untargeted metabolomics

Warwick B. Dunn et al.

METABOLOMICS (2013)

Article Biochemistry & Molecular Biology

HMDB 3.0-The Human Metabolome Database in 2013

David S. Wishart et al.

NUCLEIC ACIDS RESEARCH (2013)

Article Chemistry, Analytical

XCMS Online: A Web-Based Platform to Process Untargeted Metabolomic Data

Ralf Tautenhahn et al.

ANALYTICAL CHEMISTRY (2012)

Article Endocrinology & Metabolism

The measurement of urinary Δ1-piperideine-6-carboxylate, the alter ego of α-aminoadipic semialdehyde, in Antiquitin deficiency

Eduard A. Struys et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2012)

Article Biochemistry & Molecular Biology

HMDB: a knowledgebase for the human metabolome

David S. Wishart et al.

NUCLEIC ACIDS RESEARCH (2009)

Article Chemistry, Organic

The role of imine-enamine tautomerism in effecting cross-aldol condensations

James H. Babler et al.

TETRAHEDRON LETTERS (2007)

Article Biochemistry & Molecular Biology

HMDB: the human metabolome database

David S. Wishart et al.

NUCLEIC ACIDS RESEARCH (2007)

Article Biochemistry & Molecular Biology

Mutations in antiquitin in individuals with pyridoxine-dependent seizures

PB Mills et al.

NATURE MEDICINE (2006)

Article Medical Laboratory Technology

METLIN - A metabolite mass spectral database

CA Smith et al.

THERAPEUTIC DRUG MONITORING (2005)