Abstract |
In summary, we have 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. This method is particularly useful for testing random samples from asymptomatic patients without any provocative test, and it is suitable to widely survey a fairly large population, such as patients with episodic manifestations and families with a history of SIDS.
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Authors | P Rinaldo, J J O'Shea, R D Welch, K Tanaka |
Journal | Progress in clinical and biological research
(Prog Clin Biol Res)
Vol. 321
Pg. 411-8
( 1990)
ISSN: 0361-7742 [Print] United States |
PMID | 2326302
(Publication Type: Clinical Trial, Comparative Study, Controlled Clinical Trial, Journal Article)
|
Chemical References |
- Carbon Isotopes
- Fatty Acids
- Nitrogen Isotopes
- Acyl-CoA Dehydrogenases
- Acyl-CoA Dehydrogenase
- Glycine
|
Topics |
- Acyl-CoA Dehydrogenase
- Acyl-CoA Dehydrogenases
(deficiency)
- Carbon Isotopes
- Electrons
- Fatty Acids
(urine)
- Glycine
(urine)
- Humans
- Mass Spectrometry
- Nitrogen Isotopes
- Prospective Studies
- Retrospective Studies
- Sudden Infant Death
(epidemiology)
|