Diagnosis of isovaleric acidaemia by tandem mass spectrometry: False positive result due to pivaloylcarnitine in a newborn screening programme
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005424331822/fullpdf
Reference11 articles.
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2. New developments in neonatal screening;Bartlett;Arch Dis Child,1997
3. Fatty acid oxidation and cardiac function in the sodium pivalate model of secondary carnitine defi ciency;Broderick;Metabolism,1995
4. (2-Ethoxyethoxy)acetic acid: an unusual compound found in the gas chromatographic analysis of urinary organic acids;Kamerling;Clin Chim Acta,1977
5. Differential excretion of xenobiotic acyl-esters of carnitine due to administration of pivampicillin and valproate;Melegh;Biochem Med Metab Biol,1990
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