Search Results - "Bilic, K."

Psycho-organic symptoms as early manifestation of adult onset POMT1 -related limb girdle muscular dystrophy by 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

“…Abstract We report two siblings of Croatian consanguineous healthy parents with a novel homozygous missense mutation in the POMT1 gene, presenting with…”
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Rupture of the middle cerebral artery aneurysm as a presenting symptom of late-onset Pompe disease in an adult with a novel GAA gene mutation by Peric, S., Fumic, K., Bilic, K., Reuser, A., Rakocevic Stojanovic, V.

“…Pompe disease is an autosomal recessive disorder caused by deficient activity of acid alpha-glucosidase [1]. Infantile Pompe disease presents in the first…”
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3FC1.6 S-adenosylhomocysteine hydrolase deficiency -a natural model for study of various neurological problems in children with possible dysmethylation pathogenesis by Barić, I., Ćuk, M., Ramadža, D. Petković, Bilić, K., Martinac, I., Sarnavka, V., Vugrek, O., Mudd, H.S., Fumić, K.

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Rupture of the middle cerebral artery aneurysm as a presenting symptom of late-onset Pompe disease in an adult with a novel GAA gene mutation by Peric, S, Fumic, K, Bilic, K, Reuser, A, Rakocevic Stojanovic, V

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P05.10 Early-onset Gaucher disease (GD) in an infant – what phenotype to expect along the neuronopathic continuum and how to treat it? by Ćuk, M., Fumić, K., Bilić, K., Sidransky, E., Vellodi, A., Juras, K., Sarnavka, V., Jelinić, L., Rajić, L.J., Mikulić, M., Padovan, R. Stern, Hribljan, M. Čačić, Matić, T., Cvitković, M., Galić, S., Novak, M., Richter, D., Mičić, D., Čuljat, M., Barić, I.

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