Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1
Dardis, A, Michelakakis, H, Rozenfeld, P, Fumic, K, Wagner, J, Pavan, E, Fuller, M, Revel-Vilk, S, Hughes, D, Cox, T, Aerts, J
Published in Orphanet journal of rare diseases (21.12.2022)
Published in Orphanet journal of rare diseases (21.12.2022)
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Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting
Winchester, B., Bali, D., Bodamer, O.A., Caillaud, C., Christensen, E., Cooper, A., Cupler, E., Deschauer, M., Fumić, K., Jackson, M., Kishnani, P., Lacerda, L., Ledvinová, J., Lugowska, A., Lukacs, Z., Maire, I., Mandel, H., Mengel, E., Müller-Felber, W., Piraud, M., Reuser, A., Rupar, T., Sinigerska, I., Szlago, M., Verheijen, F., van Diggelen, O.P., Wuyts, B., Zakharova, E., Keutzer, J.
Published in Molecular genetics and metabolism (01.03.2008)
Published in Molecular genetics and metabolism (01.03.2008)
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Conference Proceeding
Genotype–phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II
Dvorakova, L., Vlaskova, H., Sarajlija, A., Ramadza, D. P., Poupetova, H., Hruba, E., Hlavata, A., Bzduch, V., Peskova, K., Storkanova, G., Kecman, B., Djordjevic, M., Baric, I., Fumic, K., Barisic, I., Reboun, M., Kulhanek, J., Zeman, J., Magner, M.
Published in Clinical genetics (01.05.2017)
Published in Clinical genetics (01.05.2017)
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Psycho-organic symptoms as early manifestation of adult onset POMT1 -related limb girdle muscular dystrophy
Haberlova, J, Mitrović, Z, Žarković, 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
Published in Neuromuscular disorders : NMD (01.11.2014)
Published in Neuromuscular disorders : NMD (01.11.2014)
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Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants
Kroos, Marian, Hoogeveen-Westerveld, Marianne, Michelakakis, Helen, Pomponio, Robert, Van der Ploeg, Ans, Halley, Dicky, Reuser, Arnold, Augoustides-Savvopoulou, Persephone, Ausems, Margreet, Llona, Jose Barcena, Bautista Lorite, Juan, van der Beek, Nadine, Bonafe, Luisa, Cuk, Mario, D'Hooghe, Marc, Engelen, Baziel, Farouk, A., Fumic, K., Garcia-Delgado, E., Herzog, Andreas, Hurst, J., Jones, Simon, Kariminejad, M. H., Küçükçongar, Aynur, Lissens, W., Lund, Allan, Majoor-Krakauer, Danielle, Kumamoto, Shingo, Maravi, E., Marie, Suely, Mengel, Eugen, Mavridou, Irene, Munteis Olivas, E., Najmabadi, H., Okumiya, Toshika, Peric, Stojan, Paschke, Eduard, Plecko, Barbara, Robberecht, Wim, Serdaroglu, Piraye, Shboul, Mohammad, Tansek, Mojca Zerjav, Tarnutzer, A., Stojanovic, Vidosava Rakocevic, Tylki-Szymanska, Anna, Venâncio, Maria, Verhoeven, Kristof
Published in Human mutation (01.08.2012)
Published in Human mutation (01.08.2012)
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PP15.13 – 2509: European network about inherited neurometabolic diseases
Cvitanovic-Sojat, L, Barišić, N, Lehman, I, Fumic, K, Baric, I
Published in European journal of paediatric neurology (01.05.2015)
Published in European journal of paediatric neurology (01.05.2015)
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S‐Adenosylhomocysteine hydrolase deficiency: A second patient, the younger brother of the index patient, and outcomes during therapy
Barić, I., Ćuk, M., Fumić, K., Vugrek, O., Allen, R. H., Glenn, B., Maradin, M., Pažanin, L., Pogribny, I., Radoš, M., Sarnavka, V., Schulze, A., Stabler, S., Wagner, C., Zeisel, S. H., Mudd, S. H.
Published in Journal of inherited metabolic disease (01.12.2005)
Published in Journal of inherited metabolic disease (01.12.2005)
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POMT1-associated walker-warburg syndrome: a disorder of dendritic development of neocortical neurons
Judas, M, Sedmak, G, Rados, M, Sarnavka, V, Fumić, K, Willer, T, Gross, C, Hehr, U, Strahl, S, Cuk, M, Barić, I
Published in Neuropediatrics (01.02.2009)
Published in Neuropediatrics (01.02.2009)
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Farber lipogranulomatosis type 1 – Late presentation and early death in a Croatian boy with a novel homozygous ASAH1 mutation
Cvitanovic-Sojat, L, Juraski, R. Gjergja, Sabourdy, F, Fensom, A.H, Fumic, K, Paschke, E, Levade, T
Published in European journal of paediatric neurology (01.03.2011)
Published in European journal of paediatric neurology (01.03.2011)
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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, J. P. N., Wanders, R. J. A.
Published in Journal of inherited metabolic disease (01.02.2001)
Published in Journal of inherited metabolic disease (01.02.2001)
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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.
Published in Journal of inherited metabolic disease (01.10.2006)
Published in Journal of inherited metabolic disease (01.10.2006)
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PB2204 SERUM YKL‐40 LEVELS ARE ELEVATED IN PRIMARY AND SECONDARY MYELOFIBROSIS AND MAY BE AFFECTING THEIR SURVIVAL
Krečak, I., Gverić‐Krečak, V., Rončević, P., Lapić, I., Fumic, K., Bašić‐Kinda, S., Duraković, N.
Published in HemaSphere (01.06.2019)
Published in HemaSphere (01.06.2019)
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Apolipoprotein E phenotypes and genotypes as determined by polymerase chain reaction using allele-specific oligonucleotide probes and the amplification refractory mutation system in children with insulin-dependent diabetes mellitus
Stavljenic-Rukavina, A., Sertic, J., Salzer, B., Dumic, M., Radica, A., Fumic, K., Krajina, A.
Published in Clinica chimica acta (16.07.1993)
Published in Clinica chimica acta (16.07.1993)
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S-Adenosylhomocysteine Hydrolase Deficiency in a Human: A Genetic Disorder of Methionine Metabolism
Barić, Ivo, Fumić, Ksenija, Glenn, Byron, Ćuk, Mario, Schulze, Andreas, Finkelstein, James D., James, S. Jill, Mejas̆ki-Bos̆njak, Vlatka, Paz̆anin, Leo, Pogribny, Igor P., Rados̆, Marko, Sarnavka, Vladimir, Sćukanec-Spoljar, Mira, Allen, Robert H., Stabler, Sally, Uzelac, Lidija, Vugrek, Oliver, Wagner, Conrad, Zeisel, Steven, Mudd, S. Harvey, Cantoni, Giulio L.
Published in Proceedings of the National Academy of Sciences - PNAS (23.03.2004)
Published in Proceedings of the National Academy of Sciences - PNAS (23.03.2004)
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P102 Bone marrow trabnsplantation for acute myeloid leukemia from donor with Gaucher disease followed by enzyme replacement therapy (ERT)
Mrsić, M, Labar, B, Serventi-Seiwerth, R, Potočki, K, Fumić, K, Stern-Padovan, R, Prutki, M, Duraković, N, Bogdanić, V
Published in Leukemia research (2007)
Published in Leukemia research (2007)
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Plasma biomarker identification in S-adenosylhomocysteine hydrolase deficiency
Sedic, Mirela, Kraljevic Pavelic, Sandra, Cindric, Mario, Vissers, Johannes P. C., Peronja, Marija, Josic, Djuro, Cuk, Mario, Fumic, Ksenija, Pavelic, Krešimir, Baric, Ivo
Published in Electrophoresis (01.08.2011)
Published in Electrophoresis (01.08.2011)
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Magnetic resonance findings in a neonate with nonketotic hyperglycinemia: case report
Culjat, Marko, Benjak, Vesna, Dasovic-Buljevic, Andrea, Ozretic, David, Fumic, Ksenija, Acquaviva, Cécile, Baric, Ivo
Published in Journal of computer assisted tomography (01.09.2010)
Published in Journal of computer assisted tomography (01.09.2010)
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