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- [2] 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
- [5] BEGER RD, 2006, METABOLOMICS
- [10] Brindle JT, 2002, NAT MED, V8, P1439, DOI 10.1038/nm802