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2. 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... |
3. 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: phosphoribosyl pyrophosphate 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... |
4. Spremembe v metilaciji DNK, povezane s periodičnim vročinskim sindromom z aftami, tonzilitisom in adenitisomEma Lovšin, 2023, doctoral dissertation Keywords: sindrom PFAPA, metilacija DNK, epigenetika, MeDIP, MBD Full text (file, 2,88 MB) |
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9. Genetske značilnosti otrok s periodičnim vročinskim sindromom z aftami, tonzilitisom in adenitisomDaša Perko, 2019, doctoral dissertation Keywords: PFAPA, avtoinflamatorne bolezni, periodični vročinski sindrom, ponavljajoče vročine, afte, tonzilitis, adenitis, klinične značilnosti, genetske značilnosti, genetsko ozadje, inflamasom, spremembe z nizko penetranco, variabilna ekspresivnost Full text (file, 2,67 MB) |
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