Quantitative plasma acylcarnitine analysis using electrospray tandem mass spectrometry for the diagnosis of organic acidaemias and fatty acid oxidation defects-Reference-Cited by-同舟云学术

Quantitative plasma acylcarnitine analysis using electrospray tandem mass spectrometry for the diagnosis of organic acidaemias and fatty acid oxidation defects

Published:1999-05 Issue:3 Volume:22 Page:302-306
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Vreken P.¹,van Lint A. E. M.¹,Bootsma A. H.¹,Overmars H.¹,Wanders R. J. A.¹,van Gennip A. H.¹

Affiliation:

1. ; Academic Medical Center; University of Amsterdam; Amsterdam The Netherlands

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005587617745/fullpdf

Reference9 articles.

1. Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry;Chace;Clin Chem,1997

2. Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism;Millington;J Inher Metab Dis,1990

3. Prenatal diagnosis of mitochondrial fatty acid oxidation defects;Nada;Prenat Diagn,1996

4. Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry;Rashed;Pediatr Res,1995

5. Inborn errors of metabolism diagnosed in sudden death cases by acylcarnitine analysis of postmortem bile;Rashed;Clin Chem,1995

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