Diagnosis of glutaric aciduria type 1 by measuring 3-hydroxyglutaric acid in dried urine spots by liquid chromatography tandem mass spectrometry-Reference-Cited by-同舟云学术

Diagnosis of glutaric aciduria type 1 by measuring 3-hydroxyglutaric acid in dried urine spots by liquid chromatography tandem mass spectrometry

Published:2010-10-27 Issue:1 Volume:34 Page:173-180
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Al-Dirbashi Osama Y.,Kölker Stefan,Ng Dione,Fisher Lawrence,Rupar Tony,Lepage Nathalie,Rashed Mohamed S.,Santa Tomofumi,Goodman Stephen I.,Geraghty Michael T.,Zschocke Johannes,Christensen Ernst,Hoffmann Georg F.,Chakraborty Pranesh

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://www.springerlink.com/index/pdf/10.1007/s10545-010-9223-2

Reference29 articles.

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2. Al-Dirbashi OY, Santa T, Al-Qahtani K, Al-Amoudi M, Rashed MS (2007) Analysis of organic acid markers relevant to inherited metabolic diseases by UPLC-MS/MS as benzofurazan derivatives. Rapid Commun Mass Spectrom 21:1984–1990

3. Al-Dirbashi OY, Santa T, Rashed MS, Al-Hassnan Z, Shimozawa N, Chedrawi A, Jacob M, Al-Mokhadab M (2008) Rapid UPLC-MS/MS method for routine analysis of plasma pristanic, phytanic, and very long chain fatty acid markers of peroxisomal disorders. J Lipid Res 49:1855–1862

4. Baric I, Wagner L, Feyh P, Liesert M, Buckel W, Hoffmann GF (1999) Sensitivity and specificity of free and total glutaric acid and 3-hydroxyglutaric acid measurements by stable isotope dilution assays for the diagnosis of glutaric acidurias type I. J Inher Metab Dis 22:867–882

5. Christensen E, Ribes A, Merinero B, Zschocke J (2004) Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis 27:861–868

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