Prati
Mario Cuk
Mario Cuk
University Hospital Centre and School of Medicine Zagreb
Potvrđena adresa e-pošte na kbc-zagreb.hr
Naslov
Citirano
Citirano
Godina
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
2492004
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
1462017
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
972005
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
852012
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
842016
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
802018
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
672003
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
502014
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
292015
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
282006
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
202007
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
182008
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
142003
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
132007
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
122016
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
72011
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
42019
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
32012
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
22007
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
12015
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