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.
|Original language||English (US)|
|Number of pages||8|
|Journal||Progress in clinical and biological research|
|State||Published - 1990|
ASJC Scopus subject areas