Fumic K - Search Results

1

GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.

Hofer D, Paul K, Fantur K, Beck M, Bürger F, Caillaud C, Fumic K, Ledvinova J, Lugowska A, Michelakakis H, Radeva B, Ramaswami U, Plecko B, Paschke E. Hofer D, et al. Among authors: fumic k. Hum Mutat. 2009 Aug;30(8):1214-21. doi: 10.1002/humu.21031. Hum Mutat. 2009. PMID: 19472408

2

Enzyme replacement therapy in two patients with an advanced severe (Hurler) phenotype of mucopolysaccharidosis I.

Tokic V, Barisic I, Huzjak N, Petkovic G, Fumic K, Paschke E. Tokic V, et al. Among authors: fumic k. Eur J Pediatr. 2007 Jul;166(7):727-32. doi: 10.1007/s00431-006-0316-8. Epub 2006 Oct 17. Eur J Pediatr. 2007. PMID: 17043838

3

Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting.

Pompe Disease Diagnostic Working Group; Winchester B, Bali D, Bodamer OA, Caillaud C, Christensen E, Cooper A, Cupler E, Deschauer M, Fumić K, Jackson M, Kishnani P, Lacerda L, Ledvinová J, Lugowska A, Lukacs Z, Maire I, Mandel H, Mengel E, Müller-Felber W, Piraud M, Reuser A, Rupar T, Sinigerska I, Szlago M, Verheijen F, van Diggelen OP, Wuyts B, Zakharova E, Keutzer J. Pompe Disease Diagnostic Working Group, et al. Among authors: fumic k. Mol Genet Metab. 2008 Mar;93(3):275-81. doi: 10.1016/j.ymgme.2007.09.006. Epub 2007 Dec 19. Mol Genet Metab. 2008. PMID: 18078773

4

Farber lipogranulomatosis type 1--late presentation and early death in a Croatian boy with a novel homozygous ASAH1 mutation.

Cvitanovic-Sojat L, Gjergja Juraski R, Sabourdy F, Fensom AH, Fumic K, Paschke E, Levade T. Cvitanovic-Sojat L, et al. Among authors: fumic k. Eur J Paediatr Neurol. 2011 Mar;15(2):171-3. doi: 10.1016/j.ejpn.2010.06.002. Epub 2010 Jul 7. Eur J Paediatr Neurol. 2011. PMID: 20609603

5

Mitochondrial myopathy associated with a novel 5522G>A mutation in the mitochondrial tRNA(Trp) gene.

Barić I, Fumić K, Petković Ramadža D, Sperl W, Zimmermann FA, Muačević-Katanec D, Mitrović Z, Pažanin L, Cvitanović Šojat L, Kekez T, Reiner Z, Mayr JA. Barić I, et al. Among authors: fumic k. Eur J Hum Genet. 2013 Aug;21(8):871-5. doi: 10.1038/ejhg.2012.272. Epub 2012 Dec 12. Eur J Hum Genet. 2013. PMID: 23232693 Free PMC article.

6

The molecular basis of phenylalanine hydroxylase deficiency in Croatia.

Zschocke J, Preusse A, Sarnavka V, Fumic K, Mardesic D, Hoffmann GF, Baric I. Zschocke J, et al. Among authors: fumic k. Hum Mutat. 2003 Apr;21(4):399. doi: 10.1002/humu.9115. Hum Mutat. 2003. PMID: 12655552

7

Genotype-phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II.

Dvorakova L, Vlaskova H, Sarajlija A, Ramadza DP, Poupetova H, Hruba E, Hlavata A, Bzduch V, Peskova K, Storkanova G, Kecman B, Djordjevic M, Baric I, Fumic K, Barisic I, Reboun M, Kulhanek J, Zeman J, Magner M. Dvorakova L, et al. Among authors: fumic k. Clin Genet. 2017 May;91(5):787-796. doi: 10.1111/cge.12927. Epub 2017 Mar 17. Clin Genet. 2017. PMID: 27883178

8

[Mucolipidosis type III (case report)].

Ligutić I, Barisić I, Fumić K, Sabados M. Ligutić I, et al. Among authors: fumic k. Lijec Vjesn. 1996 Jan-Feb;118(1-2):17-20. Lijec Vjesn. 1996. PMID: 8759415 Croatian.

9

Rupture of the middle cerebral artery aneurysm as a presenting symptom of late-onset Pompe disease in an adult with a novel GAA gene mutation.

Peric S, Fumic K, Bilic K, Reuser A, Rakocevic Stojanovic V. Peric S, et al. Among authors: fumic k. Acta Neurol Belg. 2014 Jun;114(2):165-6. doi: 10.1007/s13760-013-0265-8. Epub 2013 Dec 12. Acta Neurol Belg. 2014. PMID: 24338761 No abstract available.

10

Functional analysis of human S-adenosylhomocysteine hydrolase isoforms SAHH-2 and SAHH-3.

Fumić K, Beluzić R, Cuk M, Pavkov T, Kloor D, Barić I, Mijić I, Vugrek O. Fumić K, et al. Eur J Hum Genet. 2007 Mar;15(3):347-51. doi: 10.1038/sj.ejhg.5201757. Epub 2006 Dec 13. Eur J Hum Genet. 2007. PMID: 17164794

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