Fumić K - Search Results

1

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

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

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

5

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.

6

[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.

7

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

8

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.

9

A single mutation at Tyr143 of human S-adenosylhomocysteine hydrolase renders the enzyme thermosensitive and affects the oxidation state of bound cofactor nicotinamide-adenine dinucleotide.

Beluzić R, Cuk M, Pavkov T, Fumić K, Barić I, Mudd SH, Jurak I, Vugrek O. Beluzić R, et al. Among authors: fumic k. Biochem J. 2006 Dec 1;400(2):245-53. doi: 10.1042/BJ20060749. Biochem J. 2006. PMID: 16872278 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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