Literature DB >> 9746242

Rapid stable isotope dilution analysis of very-long-chain fatty acids, pristanic acid and phytanic acid using gas chromatography-electron impact mass spectrometry.

P Vreken1, A E van Lint, A H Bootsma, H Overmars, R J Wanders, A H van Gennip.   

Abstract

A common feature of most peroxisomal disorders is the accumulation of very-long-chain fatty acids (VLCFAs) and/or pristanic and phytanic acid in plasma. Previously described methods utilizing either gas chromatography alone or gas chromatography-mass spectrometry are, in general, time-consuming and unable to analyze VLCFAs, pristanic and phytanic acid within a single analysis. We describe a simple, reproducible and rapid method using gas chromatography/mass spectrometry with deuterated internal standards. The method was evaluated by analysing 30 control samples and samples from 35 patients with defined peroxisomal disorders and showed good discrimination between controls and patients. This method is suitable for routine screening for peroxisomal disorders.

Entities:  

Mesh：

Substances：

Year:  1998        PMID： 9746242     DOI： 10.1016/s0378-4347(98)00186-8

Source DB:  PubMed          Journal:  J Chromatogr B Biomed Sci Appl        ISSN： 1387-2273


  21 in total

1.  Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder.

Authors:  Kim D Falkenberg; Nancy E Braverman; Ann B Moser; Steven J Steinberg; Femke C C Klouwer; Agatha Schlüter; Montserrat Ruiz; Aurora Pujol; Martin Engvall; Karin Naess; FrancJan van Spronsen; Irene Körver-Keularts; M Estela Rubio-Gozalbo; Sacha Ferdinandusse; Ronald J A Wanders; Hans R Waterham
Journal:  Am J Hum Genet       Date:  2017-12-07       Impact factor: 11.025

2.  Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis.

Authors:  Sacha Ferdinandusse; Mari S Ylianttila; Jolein Gloerich; M Kristian Koski; Wendy Oostheim; Hans R Waterham; J Kalervo Hiltunen; Ronald J A Wanders; Tuomo Glumoff
Journal:  Am J Hum Genet       Date:  2005-11-15       Impact factor: 11.025

3.  Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels.

Authors:  C Walter; J Gootjes; P A Mooijer; H Portsteffen; C Klein; H R Waterham; P G Barth; J T Epplen; W H Kunau; R J Wanders; G Dodt
Journal:  Am J Hum Genet       Date:  2001-06-01       Impact factor: 11.025

4.  Non-manifesting Refsum heterozygotes carrying the c.135-2A>G PAHX gene transition.

Authors:  Josef Finsterer; Günther Regelsberger; Till Voigtländer
Journal:  Neurol Sci       Date:  2008-07-09       Impact factor: 3.307

5.  Evaluation of C26:0-lysophosphatidylcholine and C26:0-carnitine as diagnostic markers for Zellweger spectrum disorders.

Authors:  Femke C C Klouwer; Sacha Ferdinandusse; Henk van Lenthe; Wim Kulik; Ronald J A Wanders; Bwee Tien Poll-The; Hans R Waterham; Frédéric M Vaz
Journal:  J Inherit Metab Dis       Date:  2017-07-04       Impact factor: 4.982

6.  Ataxia with loss of Purkinje cells in a mouse model for Refsum disease.

Authors:  Sacha Ferdinandusse; Anna W M Zomer; Jasper C Komen; Christina E van den Brink; Melissa Thanos; Frank P T Hamers; Ronald J A Wanders; Paul T van der Saag; Bwee Tien Poll-The; Pedro Brites
Journal:  Proc Natl Acad Sci U S A       Date:  2008-11-11       Impact factor: 11.205

7.  Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges.

Authors:  Maria Schabhüttl; Thomas Wieland; Jan Senderek; Jonathan Baets; Vincent Timmerman; Peter De Jonghe; Mary M Reilly; Karl Stieglbauer; Eva Laich; Reinhard Windhager; Wolfgang Erwa; Slave Trajanoski; Tim M Strom; Michaela Auer-Grumbach
Journal:  J Neurol       Date:  2014-03-15       Impact factor: 4.849

8.  Peroxisomal alterations in Alzheimer's disease.

Authors:  Jianqiu Kou; Gabor G Kovacs; Romana Höftberger; Willem Kulik; Alexander Brodde; Sonja Forss-Petter; Selma Hönigschnabl; Andreas Gleiss; Britta Brügger; Ronald Wanders; Wilhelm Just; Herbert Budka; Susanne Jungwirth; Peter Fischer; Johannes Berger
Journal:  Acta Neuropathol       Date:  2011-05-19       Impact factor: 17.088

9.  Treatment of an adrenomyeloneuropathy patient with Lorenzo's oil and supplementation with docosahexaenoic acid--a case report.

Authors:  Gisella Terre'Blanche; Mietha M van der Walt; Jacobus J Bergh; Lodewyk J Mienie
Journal:  Lipids Health Dis       Date:  2011-08-26       Impact factor: 3.876

10.  LC-MS Based Platform Simplifies Access to Metabolomics for Peroxisomal Disorders.

Authors:  Henry Gerd Klemp; Matthias Kettwig; Frank Streit; Jutta Gärtner; Hendrik Rosewich; Ralph Krätzner
Journal:  Metabolites       Date:  2021-05-29
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.