Diagnosis of medium chain acyl-CoA dehydrogenase deficiency by stable isotope dilution analysis of urinary acylglycines: retrospective and prospective studies, and comparison of its accuracy to acylcarnitine identification by FAB/mass spectrometry.
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Summary
It is demonstrated that the accurate quantitation of urinary HG and PPG by stable isotope dilution analysis is currently the most reliable method for the diagnosis of MCAD deficiency.
- Type
- article
- Published
- 1990-01-01
- Cited by
- 7
- References
- 0
- OpenAlex
- https://openalex.org/W216107190
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:21289556
Keywords
Isotope dilution, Asymptomatic, Mass spectrometry, Urinary system, Population
References
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Cited by
- When do gut flora in the newborn produce 3-phenylpropionic acid? Implications for early diagnosis of medium-chain acyl-CoA dehydrogenase deficiency.
- A biochemical perspective on the use of tandem mass spectrometry for newborn screening and clinical testing.
- Evaluation of urinary acylglycines by electrospray tandem mass spectrometry in mitochondrial energy metabolism defects and organic acidurias.
- Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing.
- Metabolomics analysis reveals large effects of gut microflora on mammalian blood metabolites
- The Laboratory Diagnosis of Inborn Errors of Mitochondrial Fatty Acid Oxidation
- Mass Spectrometry in Hemoglobin Analysis ( Appendix 1 & 2 ) 4 . 1 Enhanced Detection of Hemoglobin Variants by MS 4 . 2 Minor Hemoglobins
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