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Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families.
Sass JO, Gemperle-Britschgi C, Tarailo-Graovac M, Patel N, Walter M, Jordanova A, Alfadhel M, Barić I, Çoker M, Damli-Huber A, Faqeih EA, García Segarra N, Geraghty MT, Jåtun BM, Kalkan Uçar S, Kriewitz M, Rauchenzauner M, Bilić K, Tournev I, Till C, Sayson B, Beumer D, Ye CX, Zhang LH, Vallance H, Alkuraya FS, van Karnebeek CD. Sass JO, et al. Among authors: bilic k. Mol Genet Metab. 2016 Sep;119(1-2):44-9. doi: 10.1016/j.ymgme.2016.07.008. Epub 2016 Jul 22. Mol Genet Metab. 2016. PMID: 27477828
Glyceroluria and neonatal hemochromatosis.
Barić I, Zibar K, Ćorić M, Santer R, Bonilla S, Bilić K, Buljević AD, Benjak V, Fumić K, Whitington PF. Barić I, et al. Among authors: bilic k. J Pediatr Gastroenterol Nutr. 2012 Oct;55(4):e126-8. doi: 10.1097/MPG.0b013e3182347a26. J Pediatr Gastroenterol Nutr. 2012. PMID: 21886008 No abstract available.
Psycho-organic symptoms as early manifestation of adult onset POMT1-related limb girdle muscular dystrophy.
Haberlova J, Mitrović Z, Zarković K, Lovrić D, Barić V, Berlengi L, Bilić K, Fumić K, Kranz K, Huebner A, von der Hagen M, Barresi R, Bushby K, Straub V, Barić I, Lochmüller H. Haberlova J, et al. Among authors: bilic k. Neuromuscul Disord. 2014 Nov;24(11):990-2. doi: 10.1016/j.nmd.2014.06.440. Epub 2014 Jul 3. Neuromuscul Disord. 2014. PMID: 25088310
ORAI1 mutations abolishing store-operated Ca2+ entry cause anhidrotic ectodermal dysplasia with immunodeficiency.
Lian J, Cuk M, Kahlfuss S, Kozhaya L, Vaeth M, Rieux-Laucat F, Picard C, Benson MJ, Jakovcevic A, Bilic K, Martinac I, Stathopulos P, Kacskovics I, Vraetz T, Speckmann C, Ehl S, Issekutz T, Unutmaz D, Feske S. Lian J, et al. Among authors: bilic k. J Allergy Clin Immunol. 2018 Oct;142(4):1297-1310.e11. doi: 10.1016/j.jaci.2017.10.031. Epub 2017 Nov 16. J Allergy Clin Immunol. 2018. PMID: 29155098 Free PMC article.
17 results