131. Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia – a novel fumarylacetoacetate hydrolase (FAH) intronic disease-causing variantJaka Šikonja, Jernej Brecelj, Mojca Žerjav-Tanšek, Barbka Repič-Lampret, Ana Drole Torkar, Simona Klemenčič, Neža Lipovec, Valentina Stefanova Kralj, Sara Bertok, Jernej Kovač, Barbara Faganel Kotnik, Markéta Tesařová, Žiga Iztok Remec, Maruša Debeljak, Tadej Battelino, Urh Grošelj, 2022, original scientific article Keywords: tyrosinemia, fumarylacetoacetate hydrolase, nitisinone, dried blood spot, succinylacetone, intronic variant Full text (file, 1,10 MB) This document has more files! More... |
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137. Pokojninski sistem --> 2. steberVeronika Kralj, 2008, undergraduate thesis Keywords: Slovenija, Hrvatska, Madžarska, pokojninsko zavarovanje, invalidsko zavarovanje, pokojninski skladi, pokojnine, varčevanje, mednarodne primerjave Full text (outside link) |
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