共 75 条
[1]
Medium-chain Acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-Based prospective screening of newborns differ from those observed in patients with clinical symptoms: Identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency
[J].
AMERICAN JOURNAL OF HUMAN GENETICS,
2001, 68 (06)
:1408-1418
[2]
Angelini C, 1996, CARNITINE - PATHOBIOCHEMICAL BASICS AND CLINICAL APPLICATIONS, P97
[3]
*BOEHR MANNH, 1989, UV METH DET L CARN B
[7]
Direct analysis by electrospray ionization and matrix-assisted laser desorption ionization mass spectrometry of standard and urinary acylcarnitines - Comparison with fast atom bombardment and gas chromatography chemical ionization mass spectrometry
[J].
JOURNAL OF MASS SPECTROMETRY,
1995, 30 (12)
:1731-1741
[8]
CARTER CJ, 1986, CLIN ASPECTS HUMAN C, P50