Fumić K - Search Results

1

Hypophosphatasia: phenotypic variability and possible Croatian origin of the c.1402g>A mutation of TNSALP gene.

Petković Ramadza D, Stipoljev F, Sarnavka V, Begović D, Potocki K, Fumić K, Mornet E, Barić I. Petković Ramadza D, et al. Among authors: fumic k. Coll Antropol. 2009 Dec;33(4):1255-8. Coll Antropol. 2009. PMID: 20102078

2

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.

3

Inborn errors of metabolism at the turn of the millennium.

Barić I, Fumić K, Hoffmann GF. Barić I, et al. Among authors: fumic k. Croat Med J. 2001 Aug;42(4):379-83. Croat Med J. 2001. PMID: 11471189 Free article. Review.

4

Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy.

Lamhonwah AM, Olpin SE, Pollitt RJ, Vianey-Saban C, Divry P, Guffon N, Besley GT, Onizuka R, De Meirleir LJ, Cvitanovic-Sojat L, Baric I, Dionisi-Vici C, Fumic K, Maradin M, Tein I. Lamhonwah AM, et al. Among authors: fumic k. Am J Med Genet. 2002 Aug 15;111(3):271-84. doi: 10.1002/ajmg.10585. Am J Med Genet. 2002. PMID: 12210323

5

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

6

Management of Gaucher disease in a post-communist transitional health care system: Croatian experience.

Mrsić M, Stavljenić-Rukavina A, Fumić K, Labar B, Bogdanić V, Potocki K, Kardum-Skelin I, Rovers D. Mrsić M, et al. Among authors: fumic k. Croat Med J. 2003 Oct;44(5):606-9. Croat Med J. 2003. PMID: 14515422 Free article.

7

S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism.

Baric I, Fumic K, Glenn B, Cuk M, Schulze A, Finkelstein JD, James SJ, Mejaski-Bosnjak V, Pazanin L, Pogribny IP, Rados M, Sarnavka V, Scukanec-Spoljar M, Allen RH, Stabler S, Uzelac L, Vugrek O, Wagner C, Zeisel S, Mudd SH. Baric I, et al. Among authors: fumic k. Proc Natl Acad Sci U S A. 2004 Mar 23;101(12):4234-9. doi: 10.1073/pnas.0400658101. Epub 2004 Mar 15. Proc Natl Acad Sci U S A. 2004. PMID: 15024124 Free PMC article.

8

[Glutaric aciduria type 1: an example of the importance of early detection of so-called cerebral organic aciduria].

Barić I, Baraka K, Maradin M, Bartonicek D, Sarnavka V, Begović D, Fumić K. Barić I, et al. Among authors: fumic k. Lijec Vjesn. 2003 Nov-Dec;125(11-12):312-6. Lijec Vjesn. 2003. PMID: 15209027 Croatian.

9

[Gaucher disease: diagnosis and treatment].

Fumić K, Stavljenić-Rukavina A, Mrsić M, Potocki K. Fumić K, et al. Acta Med Croatica. 2004;58(5):353-8. Acta Med Croatica. 2004. PMID: 15756799 Review. Croatian.

10

Studies of S-adenosylhomocysteine-hydrolase polymorphism in a Croatian population.

Kloor D, Fumic K, Attig S, Tete M, Osswald H, Baric I, Tomiuk J, Kömpf J. Kloor D, et al. Among authors: fumic k. J Hum Genet. 2006;51(1):21-24. doi: 10.1007/s10038-005-0315-z. Epub 2005 Nov 5. J Hum Genet. 2006. PMID: 16273424

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