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Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening.
Koeberl DD, Young SP, Gregersen NS, Vockley J, Smith WE, Benjamin DK Jr, An Y, Weavil SD, Chaing SH, Bali D, McDonald MT, Kishnani PS, Chen YT, Millington DS. Koeberl DD, et al. Among authors: millington ds. Pediatr Res. 2003 Aug;54(2):219-23. doi: 10.1203/01.PDR.0000074972.36356.89. Epub 2003 May 7. Pediatr Res. 2003. PMID: 12736383
Comparison of dermatan sulfate and heparan sulfate concentrations in serum, cerebrospinal fluid and urine in patients with mucopolysaccharidosis type I receiving intravenous and intrathecal enzyme replacement therapy.
Zhang H, Dickson PI, Stiles AR, Chen AH, Le SQ, McCaw P, Beasley J, Millington DS, Young SP. Zhang H, et al. Among authors: millington ds. Clin Chim Acta. 2020 Sep;508:179-184. doi: 10.1016/j.cca.2020.05.035. Epub 2020 May 20. Clin Chim Acta. 2020. PMID: 32442432
183 results