Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: High Incidence of Detected Patients With Expanded Newborn Screening Program

por Remec, Ziga I., Groselj, Urh, Drole Torkar, Ana, Zerjav Tansek, Mojca, Cuk, Vanja, Perko, Dasa, Ulaga, Blanka, Lipovec, Neza, Debeljak, Marusa, Kovac, Jernej, Battelino, Tadej, Repic Lampret, Barbka
Publicado 2021

Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia – A novel fumarylacetoacetate hydrolase (FAH) intronic disease-causing variant

por Sikonja, Jaka, Brecelj, Jernej, Zerjav Tansek, Mojca, Repic Lampret, Barbka, Drole Torkar, Ana, Klemencic, Simona, Lipovec, Neza, Stefanova Kralj, Valentina, Bertok, Sara, Kovac, Jernej, Faganel Kotnik, Barbara, Tesarova, Marketa, Remec, Ziga Iztok, Debeljak, Marusa, Battelino, Tadej, Groselj, Urh
Publicado 2021