Fumić K - Search Results

1

Abnormal concentrations of acetylated amino acids in cerebrospinal fluid in acetyl-CoA transporter deficiency.

Šikić K, Peters TMA, Marušić E, Čagalj IČ, Ramadža DP, Žigman T, Fumić K, Fernandez E, Gevaert K, Debeljak Ž, Wevers RA, Barić I. Šikić K, et al. Among authors: fumic k. J Inherit Metab Dis. 2022 Nov;45(6):1048-1058. doi: 10.1002/jimd.12549. Epub 2022 Sep 11. J Inherit Metab Dis. 2022. PMID: 35999711

2

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: fumic k. 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

3

A new case of succinyl-CoA:acetoacetate transferase deficiency: favourable course despite very low residual activity.

Barić I, Sarnavka V, Fumić K, Maradin M, Begović D, Ruiter JP, Wanders RJ. Barić I, et al. Among authors: fumic k. J Inherit Metab Dis. 2001 Feb;24(1):81-2. doi: 10.1023/a:1005671109585. J Inherit Metab Dis. 2001. PMID: 11286388 No abstract available.

4

Molecular basis and clinical presentation of classic galactosemia in a Croatian population.

Ramadža DP, Sarnavka V, Vuković J, Fumić K, Krželj V, Lozić B, Pušeljić S, Pereira H, Silva MJ, Tavares de Almeida I, Barić I, Rivera I. Ramadža DP, et al. Among authors: fumic k. J Pediatr Endocrinol Metab. 2018 Jan 26;31(1):71-75. doi: 10.1515/jpem-2017-0302. J Pediatr Endocrinol Metab. 2018. PMID: 29252199

5

Metabolic follow-up of a Croatian patient with gyrate atrophy and a new mutation in the OAT gene: a case report.

Zekušić M, Škaričić A, Fumić K, Rogić D, Žigman T, Petković Ramadža D, Vukojević N, Rüfenacht V, Uroić V, Barić I. Zekušić M, et al. Among authors: fumic k. Biochem Med (Zagreb). 2018 Oct 15;28(3):030801. doi: 10.11613/BM.2018.030801. Biochem Med (Zagreb). 2018. PMID: 30429681 Free PMC article.

6

Early initiation of ambroxol treatment diminishes neurological manifestations of type 3 Gaucher disease: A long-term outcome of two siblings.

Ramadža DP, Zekušić M, Žigman T, Škaričić A, Bogdanić A, Mustać G, Bošnjak-Nađ K, Ozretić D, Ohno K, Fumić K, Barić I. Ramadža DP, et al. Among authors: fumic k. Eur J Paediatr Neurol. 2021 May;32:66-72. doi: 10.1016/j.ejpn.2021.03.013. Epub 2021 Mar 31. Eur J Paediatr Neurol. 2021. PMID: 33836415

7

Diagnosis and the importance of early treatment of tyrosinemia type 1: A case report.

Škaričić A, Zekušić M, Fumić K, Rogić D, Uroić V, Petković Ramadža D, Žigman T, Barić I. Škaričić A, et al. Among authors: fumic k. Clin Mass Spectrom. 2019 Feb 2;12:1-6. doi: 10.1016/j.clinms.2019.01.005. eCollection 2019 Apr. Clin Mass Spectrom. 2019. PMID: 34841073 Free PMC article.

8

Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency.

Karacić I, Meili D, Sarnavka V, Heintz C, Thöny B, Ramadza DP, Fumić K, Mardesić D, Barić I, Blau N. Karacić I, et al. Among authors: fumic k. Mol Genet Metab. 2009 Jul;97(3):165-71. doi: 10.1016/j.ymgme.2009.03.009. Epub 2009 Apr 1. Mol Genet Metab. 2009. PMID: 19394257 Clinical Trial.

9

S-Adenosylhomocysteine hydrolase deficiency: a second patient, the younger brother of the index patient, and outcomes during therapy.

Barić I, Cuk M, Fumić K, Vugrek O, Allen RH, Glenn B, Maradin M, Pazanin L, Pogribny I, Rados M, Sarnavka V, Schulze A, Stabler S, Wagner C, Zeisel SH, Mudd SH. Barić I, et al. Among authors: fumic k. J Inherit Metab Dis. 2005;28(6):885-902. doi: 10.1007/s10545-005-0192-9. J Inherit Metab Dis. 2005. PMID: 16435181 Free PMC article.

10

Fumaric aciduria: mild phenotype in a 8-year-old girl with novel mutations.

Maradin M, Fumić K, Hansikova H, Tesarova M, Wenchich L, Dorner S, Sarnavka V, Zeman J, Barić I. Maradin M, et al. Among authors: fumic k. J Inherit Metab Dis. 2006 Oct;29(5):683. doi: 10.1007/s10545-006-0321-0. Epub 2006 Aug 5. J Inherit Metab Dis. 2006. PMID: 16972175

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