Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy-Reference-Cited by-同舟云学术

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

Published:2021-08-02 Issue:15 Volume:131 Page:
ISSN:1558-8238
Container-title:Journal of Clinical Investigation
language:en
Short-container-title:

Author:

Engelke Udo F.H.,van Outersterp Rianne E.,Merx Jona,van Geenen Fred A.M.G.,van Rooij Arno,Berden Giel,Huigen Marleen C.D.G.,Kluijtmans Leo A.J.^ORCID,Peters Tessa M.A.,Al-Shekaili Hilal H.,Leavitt Blair R.^ORCID,de Vrieze Erik,Broekman Sanne,van Wijk Erwin^ORCID,Tseng Laura A.,Kulkarni Purva,Rutjes Floris P.J.T.,Mecinović Jasmin,Struys Eduard A.,Jansen Laura A.,Gospe Sidney M.,Mercimek-Andrews Saadet,Hyland Keith,Willemsen Michèl A.A.P.,Bok Levinus A.,van Karnebeek Clara D.M.^ORCID,Wevers Ron A.^ORCID,Boltje Thomas J.,Oomens Jos,Martens Jonathan,Coene Karlien L.M.^ORCID

Funder

United for Metabolic Disease

Stofwisselkracht

Nederlandse Organisatie voor Wetenschappelijk Onderzoek

ERC-Stg

Society for Inborn Errors of Metabolism for Netherlands and Belgium

Canadian Institutes of Health Research

Publisher

American Society for Clinical Investigation

Subject

General Medicine

Link

https://www.jci.org/articles/view/148272/files/pdf

Reference42 articles.

1. Metabolism of lysine in α-aminoadipic semialdehyde dehydrogenase-deficient fibroblasts: Evidence for an alternative pathway of pipecolic acid formation

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

3. Mutations in antiquitin in individuals with pyridoxine-dependent seizures

4. Long-term outcome in pyridoxine-dependent epilepsy

5. Lysine restricted diet for pyridoxine-dependent epilepsy: First evidence and future trials

Cited by 35 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Alterations in serum metabolomics during the first seizure and after effective control of epilepsy;Scientific Reports;2024-08-19

2. Assessment of urinary 6‐oxo‐pipecolic acid as a biomarker for ALDH7A1 deficiency;Journal of Inherited Metabolic Disease;2024-07-22

3. Dietary management for pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency, a follow‐on from the international consortium guidelines;JIMD Reports;2024-04-03

4. Evaluating the suitability of 6-oxo-PIP as a novel biomarker for pyridoxine-dependent epilepsy in multiple samples;2024-01-16

5. A one-year pilot study comparing direct-infusion high resolution mass spectrometry based untargeted metabolomics to targeted diagnostic screening for inherited metabolic diseases;Frontiers in Molecular Biosciences;2023-11-02

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