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A biallelic loss-of-function variant in MYZAP is associated with a recessive form of severe dilated cardiomyopathy.
Maver A, Zigman T, Rangrez AY, Coric M, Homolak J, Saric D, Skific I, Udovicic M, Zekusic M, Saleem U, Laufer SD, Hansen A, Frey N, Baric I, Peterlin B. Maver A, et al. Among authors: baric i. Cold Spring Harb Mol Case Stud. 2022 Jul 15;8(5):a006221. doi: 10.1101/mcs.a006221. Online ahead of print. Cold Spring Harb Mol Case Stud. 2022. PMID: 35840178 Free PMC article.
Hypogammaglobulinemia and imaging features in a patient with infantile free sialic acid storage disease (ISSD) and a novel mutation in the SLC17A5 gene.
Žigman T, Petković Ramadža D, Lušić M, Zekušić M, Ninković D, Gardijan D, Potočki K, Omerza L, Beljan L, Žarković K, Kerkhof J, Ljubojević M, de Sain-van der Velden M, Vuković J, Fumić K, Sadiković B, Barić I. Žigman T, et al. Among authors: baric i. J Pediatr Endocrinol Metab. 2018 Oct 25;31(10):1155-1159. doi: 10.1515/jpem-2017-0397. J Pediatr Endocrinol Metab. 2018. PMID: 30243016
ATP synthase deficiency due to m.8528T>C mutation - a novel cause of severe neonatal hyperammonemia requiring hemodialysis.
Žigman T, Šikić K, Petković Ramadža D, Mayr J, Wortmann S, Prokisch H, Ninković D, Dilber D, Šarić D, Rubić F, Galić S, Slaviček J, Belina D, Fumić K, Barić I. Žigman T, et al. Among authors: baric i. J Pediatr Endocrinol Metab. 2020 Nov 13;34(3):389-393. doi: 10.1515/jpem-2020-0396. Print 2021 Mar 26. J Pediatr Endocrinol Metab. 2020. PMID: 33180048
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. 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.
171 results