Adult carnitine palmitoyltransferase II deficiency: detection of characteristic carnitine esters in serum by tandem mass spectrometry.

作者信息

Gempel K, Kottlors M, Jaksch M, Gerbitz K D, Bauer M F

机构信息

Institute for Clinical Chemistry, Molecular Diagnostics and Mitochondrial Genetics, Academic Hospital Schwabing, München, Germany.

出版信息

J Inherit Metab Dis. 1999 Dec;22(8):941-2. doi: 10.1023/a:1005655927639.

DOI:10.1023/a:1005655927639

PMID:10604150

Abstract

摘要

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本文引用的文献

Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry.

Clin Chem. 1997 Nov;43(11):2106-13.

Sensitive assay of carnitine palmitoyl transferase activity in tissue homogenates with a modified spectrophotometric method for enzymatic carnitine determination.

Clin Chim Acta. 1983 Dec 15;135(2):247-51. doi: 10.1016/0009-8981(83)90142-0.

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