Author/Editor     Šmon, Andraž; Grošelj, Urh; Debeljak, Maruša; Žerjav-Tanšek, Mojca; Bertok, Sara; Avbelj, Magdalena; Trebušak Podkrajšek, Katarina; Battelino, Tadej; Repič-Lampret, Barbka
Title     Medium-chain acyl-CoA dehydrogenase deficiency
Type     članek
Vol. and No.     Letnik 46, št. 4
Publication year     2018
Volume     str. 1339-1348
ISSN     0300-0605 - The Journal of international medical research
Language     eng
Keywords     MCAD deficiency
neonatal screening
ACADM
acylcarnitines
mutations
dried blood spot