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Page 1
Psycho-organic symptoms as early manifestation of adult onset POMT1-related limb girdle muscular dystrophy.
Haberlova J, Mitrović Z, Zarković K, Lovrić D, Barić V, Berlengi L, Bilić K, Fumić K, Kranz K, Huebner A, von der Hagen M, Barresi R, Bushby K, Straub V, Barić I, Lochmüller H. Haberlova J, et al. Among authors: fumic k. Neuromuscul Disord. 2014 Nov;24(11):990-2. doi: 10.1016/j.nmd.2014.06.440. Epub 2014 Jul 3. Neuromuscul Disord. 2014. PMID: 25088310
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.
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.
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
70 results