S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism I Barić, K Fumić, B Glenn, M Ćuk, A Schulze, JD Finkelstein, SJ James, ... Proceedings of the National Academy of Sciences 101 (12), 4234-4239, 2004 | 249 | 2004 |
Store-operated Ca2+ entry controls induction of lipolysis and the transcriptional reprogramming to lipid metabolism M Maus, M Cuk, B Patel, J Lian, M Ouimet, U Kaufmann, J Yang, ... Cell metabolism 25 (3), 698-712, 2017 | 146 | 2017 |
S-Adenosylhomocysteine hydrolase deficiency: A second patient, the younger brother of the index patient, and outcomes during therapy I Barić, M Ćuk, K Fumić, O Vugrek, RH Allen, B Glenn, M Maradin, ... Journal of inherited metabolic disease 28, 885-902, 2005 | 97 | 2005 |
Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported … M Kroos, M Hoogeveen‐Westerveld, H Michelakakis, R Pomponio, ... Human mutation 33 (8), 1161-1165, 2012 | 85 | 2012 |
Store-operated Ca2+ entry regulates Ca2+-activated chloride channels and eccrine sweat gland function AR Concepcion, M Vaeth, LE Wagner, M Eckstein, L Hecht, J Yang, ... The Journal of clinical investigation 126 (11), 4303-4318, 2016 | 84 | 2016 |
ORAI1 mutations abolishing store-operated Ca2+ entry cause anhidrotic ectodermal dysplasia with immunodeficiency J Lian, M Cuk, S Kahlfuss, L Kozhaya, M Vaeth, F Rieux-Laucat, C Picard, ... Journal of Allergy and Clinical Immunology 142 (4), 1297-1310. e11, 2018 | 82 | 2018 |
Use of psychoactive substances among Zagreb University medical students: follow-up study. V Trkulja, Z Zivcec, M Cuk, Z Lacković Croatian medical journal 44 (1), 50-58, 2003 | 67 | 2003 |
Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome D Horn, D Wieczorek, K Metcalfe, I Barić, L Paležac, M Ćuk, ... European journal of human genetics 22 (6), 762-767, 2014 | 50 | 2014 |
Respiratory chain deficiency in nonmitochondrial disease A Pyle, HJ Nightingale, H Griffin, A Abicht, J Kirschner, I Baric, M Cuk, ... Neurology: Genetics 1 (1), e6, 2015 | 29 | 2015 |
A single mutation at Tyr143 of human S-adenosylhomocysteine hydrolase renders the enzyme thermosensitive and affects the oxidation state of bound cofactor … R Belužić, M Ćuk, T Pavkov, K Fumić, I Barić, SH Mudd, I Jurak, O Vugrek Biochemical Journal 400 (2), 245-253, 2006 | 28 | 2006 |
The fourth S-adenosylhomocysteine hydrolase deficient patient: Further evidence of congenital miopathy M Ćuk, M Lovrić, K Fumić, SH Mudd, O Vugrek, V Sarnavka, I Barić 6th Conference on Homocysteine Metabolism World Congress on …, 2007 | 20 | 2007 |
S-Adenosylhomocysteine hydrolase (AdoHcyase) deficiency: Enzymatic capabilities of human AdoHcyase are highly effected by changes to codon 89 and its surrounding residues R Belužić, M Ćuk, T Pavkov, I Barić, O Vugrek Biochemical and biophysical research communications 368 (1), 30-36, 2008 | 18 | 2008 |
Small supernumerary marker chromosome derived from proximal p-arm of chromosome 2: identification by fluorescent in situ hybridization. V Hitrec, L Letica, M Cuk, D Begović Croatian medical journal 44 (4), 477-479, 2003 | 14 | 2003 |
Functional analysis of human S-adenosylhomocysteine hydrolase isoforms SAHH-2 and SAHH-3 K Fumić, R Belužić, M Ćuk, T Pavkov, D Kloor, I Barić, I Mijić, O Vugrek European journal of human genetics 15 (3), 347-351, 2007 | 13 | 2007 |
Hyperinsulinism-hyperammonemia syndrome: a de novo mutation of the GLUD1 gene in twins and a review of the literature D Ninković, V Sarnavka, A Bašnec, M Ćuk, DP Ramadža, K Fumić, ... Journal of Pediatric Endocrinology and Metabolism 29 (9), 1083-1088, 2016 | 12 | 2016 |
Plasma biomarker identification in S‐adenosylhomocysteine hydrolase deficiency M Sedic, S Kraljevic Pavelic, M Cindric, JPC Vissers, M Peronja, D Josic, ... Electrophoresis 32 (15), 1970-1975, 2011 | 7 | 2011 |
The therapeutic hypothermia in treatment of hyperammonemic encephalopathy due to urea cycle disorders and organic acidemias D Ninković, Ž Mustapić, D Bartoniček, V Benjak, M Ćuk, AD Buljević, ... Klinische Pädiatrie 231 (02), 74-79, 2019 | 4 | 2019 |
S-adenosylhomocysteine hydrolase deficiency-a review of nine patients I Barić, M Ćuk, D Petković-Ramadža, K Bilić, K Zibar, V Sarnavka, ... Meeting of the Society for Inherited Metabolic Disorders, 303-303, 2012 | 3 | 2012 |
Whole blood S-adenosylhomoysteine-a reliable biomarker of S-adenosylhomocysteine hydrolase deficiency K Bilić, M Lovrić, D Petković, M Ćuk, D Kloor, K Fumić, I Barić Annual symposium of the Society for the study of inborn errors of metabolism …, 2007 | 2 | 2007 |
Lysosomal acid lipase deficiency in children: our experience and a novel possibility of enzyme replacement therapy DP Ramadža, M Ćuk, K Zibar, M Barić, V Sarnavka, K Bilić, K Fumić, ... Lijecnicki vjesnik 137 (3-4), 81-87, 2015 | 1 | 2015 |