Author/Editor		Šikonja, Jaka; Brecelj, Jernej; Žerjav-Tanšek, Mojca; Repič-Lampret, Barbka; Drole Torkar, Ana; Klemenčič, Simona; Lipovec, Neža; Stefanova Kralj, Valentina; Bertok, Sara; Kovač, Jernej; Faganel Kotnik, Barbara; Tesarova, Marketa; Remec, Žiga Iztok; Debeljak, Maruša; Battelino, Tadej; Grošelj, Urh
Title		Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia ‐ a novel fumarylacetoacetate hydrolase (FAH) intronic disease-causing variant
Type		članek
Vol. and No.		, št. Vol. 30
Publication year		2022
Volume		str. 1-7
ISSN		2214-4269
Language		eng
Keywords		pediatrija tirozenemija presejalno testiranje