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 ofa new, prevalent mutation that results in mild MCAD deficiency

Autor:	Andresen, B.S., Dobrowolski, S.F., O'Reilly, L., Muenzer, J., McCandless, S.E., Frazier, M.F., Udvari, S., Bross, P., Knudsen, I., Banas, R., Chace, D.H., Engel, P., Naylor, E.W., Gregersen, N.
Jazyk:	angličtina
Rok vydání:	2001
Zdroj:	Andresen, B S, Dobrowolski, S F, O'Reilly, L, Muenzer, J, McCandless, S E, Frazier, M F, Udvari, S, Bross, P, Knudsen, I, Banas, R, Chace, D H, Engel, P, Naylor, E W & Gregersen, N 2001, ' 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 ofa new, prevalent mutation that results in mild MCAD deficiency ' Am. J. Hum. Genet., vol. 68, no. 6, pp. 1408-1418 .
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pure_au_____::cb40e59d8d1721b714c067c66a51a1d2 https://pure.au.dk/portal/da/publications/mediumchain-acylcoa-dehydrogenase-mcad-mutations-identified-by-msmsbased-prospective-screening-of-newborns-differ-from-those-observed-in-patients-with-clinical-symptoms-identification-and-characterization-ofa-new-prevalent-mutation-that-results-in-mild-mcad-deficiency(73117250-f7b7-11da-bee9-02004c4f4f50).html Zobrazit plný text záznamu