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154. 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... |
155. Clinical and genetic characteristics of a patient with phosphoribosyl pyrophosphate synthetase 1 deficiency and a systematic literature reviewKatarina Štajer, Neja Kovač, Jaka Šikonja, Matej Mlinarič, Sara Bertok, Jernej Brecelj, Maruša Debeljak, Jernej Kovač, Gašper Markelj, David Neubauer, Rina Rus, Mojca Žerjav-Tanšek, Ana Drole Torkar, Aleksandra Zver, Tadej Battelino, Rosa Jiménez Torres, Urh Grošelj, 2023, review article Keywords: phosphoribosylpyrophosphate synthetase 1, PRPS1, PRS-I super-activity, PRS-I deficiency, Arts syndrome, X-linked Charcot-Marie-Tooth neuropathy type 5 Full text (file, 2,38 MB) This document has more files! More... |
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157. Pomen sestave in prehranskega profila žit za zajtrkKatarina Debeljak, 2014, doctoral dissertation Keywords: živila, žita za zajtrk, prehransko profiliranje, Ofcom model, FSANZ model, Traffic Light model, hranila, obrok, vitamini, minerali Full text (file, 1,91 MB) |
158. Vpliv velikosti in količine zeolitnih delcev na zadrževanje vode v rastnih substratih za okrasne rastlineMaja Kolar, 2013, doctoral dissertation Keywords: rastni substrati, zeolitni delci, fizikalne lastnosti, kemijske lastnosti, šota, krivulja vodno-zadrževalnih lastnosti, zaboji s peskom, kontejnerska kapaciteta, okrasne rastline, pelargonije, Pelargonium zonale L., namakanje, poplavne mize Full text (file, 3,25 MB) |
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