Search Results - "Laszlo, Aranka"

Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency by Knisely, A. S., Strautnieks, Sandra S., Meier, Yvonne, Stieger, Bruno, Byrne, Jane A., Portmann, Bernard C., Bull, Laura N., Pawlikowska, Ludmila, Bilezikçi, Banu, Özçay, Figen, László, Aranka, Tiszlavicz, László, Moore, Lynette, Raftos, Jeremy, Arnell, Henrik, Fischler, Björn, Németh, Antal, Papadogiannakis, Nikos, Cielecka‐Kuszyk, Joanna, Jankowska, Irena, Pawłowska, Joanna, Melín‐Aldana, Hector, Emerick, Karan M., Whitington, Peter F., Mieli‐Vergani, Giorgina, Thompson, Richard J.

“…Hepatocellular carcinoma (HCC) is rare in young children. We attempted to see if immunohistochemical and mutational‐analysis studies could demonstrate that…”
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Antioxidant enzyme activities are decreased in preterm infants and in neonates born via caesarean section by Georgeson, George D, Szőny, Barnabás J, Streitman, Károly, Varga, Ilona Sz, Kovács, Attila, Kovács, László, László, Aranka

“…Objectives: To investigate the antioxidant defense potential of human neonates according to gestational age and mode of delivery. Study design: Four study…”
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The fate of tyrosinaemic Hungarian patients before the NTBC aera by László, Aranka, Rózsa, Mária, Sallay, Eva, Tiszlavicz, László, Janovszky, Agnes, Várkonyi, Agnes, Karg, Eszter, Wittmann, Gyula, Túri, Sándor, Ugarte, Magdalena

“…Before the introduction of the NTBC treatment (Orfadine) from two tyrosinemic Hungarian families 1-3 tyrosinemic homozygous male patients died of…”
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The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe by HUNTER, Michael, HEYER, Evelyne, GITZELMANN, Richard, TORDAI, Attila, KALMAR, Lajos, SZALAI, Csaba, BALOGH, Istvan, LUPU, Constantin, CORCHES, Axinia, POPA, Gabriela, PEREZ-LEZAUN, Anna, KALAYDJIEVA, Luba V, AUSTERLITZ, Frederic, ANGELICHEVA, Dora, NEDKOVA, Vania, BRIONES, Paz, GATA, Anna, DE PABLO, Rosario, LASZLO, Aranka, BOSSHARD, Nils

“…Galactokinase deficiency is an inborn error of metabolism that, if untreated, results in the development of cataracts in the first weeks of life. The disorder…”
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Mutation analysis of alpha-galactosidase a gene in Hungarian Fabry patients by László, Aranka, Török, László, Raffai, Sarolta, Török, Eva, Sallay, Eva, Endreffy, Emoke, Morvai, László, van Amstel, J K Ploos

“…AIM was to detect the mutations of alpha-galactosidase A gene in two Hungarian Fabry patients. Mutation analysis was performed by polymerase chain reaction…”
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99-mTc-HMPAO single photon emission computed tomography examinations in genetically determined neurometabolic disorders by László, Aranka, Ambrus, Edit, Vörös, Erika, Svékus, András, Kóbor, Jeno, Bereg, Edit, Palatka, János, Pávics, László

“…The aim of our study was to determine regional cerebral blood flow (rCBF) abnormalities in different types of enzymopathies. Among the patients with…”
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Natural killer cell cytotoxicity is deficient in newborns with sepsis and recurrent infections by GEORGESON, George D, SZÖNY, Barnabas J, STREITMAN, Karoly, KOVACS, Attila, KOVACS, Laszlo, LASZLO, Aranka

“…We investigated natural killer (NK) cell cytotoxicity in healthy preterm and full-term newborns in comparison to adults, to elucidate the possible role of…”
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Myelination disturbance in a patient with hyperuricemia and hyperserotoninemia combined with 18q deletion syndrome by László, Aranka, Vörös, Erika, Buga, Klára, Horváth, Katalin, Mayer, Péter, Osztovics, Magda, Pávics, László, Svekus, András, Patterson, Marc C

“…We previously reported a male patient with an 18q21.3 deletion, hyperuricemia and typical symptoms of the Lesch-Nyhan syndrome who lacked…”
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Genetically determined neuromuscular disorders of some Roma families living in Hungary by Aranka, Laszlo, Peter, Mayer, Jeno, Kobor, Katalin, Racz, Gyula, Talosi, Emoke, Endreffy, Agnes, Herczegfalvi, Tibor, Hortobagyi, Laszlo, Tiszlavicz, Edit, Bereg, Marta, Katona, Janos, Szabo, Veronika, Karcagi

“…The authors discuss the clinical and molecular genetic aspects of genetically determined neuromuscular disorders of some Roma families living in Hungary. Among…”
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Blood lipid peroxidation, antioxidant enzyme activities and hemorheological changes in autistic children by László, Aranka, Novák, Zoltán, Szőllősi-Varga, Ilona, Hai, Du Quai, Vetró, Ágnes, Kovács, Attila

“…Early infantile autism is a severe form of childhood psychiatric disease with characteristic symptoms. Hyperserotoninaemia in 43.5%, lactic acidosis 43% and…”
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Molecular genetic mutation analysis in Menkes-disease with prenatal diagnosis by László, Aranka, Endreffy, Emoke, Tümer, Zeynep, Horn, Nina, Szabó, János

“…Menkes disease (MD) is an X-linked recessive multisystemic lethal, heredodegenerative disorder. Progressive neurodegeneration and connective tissue…”
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Serum serotonin, lactate and pyruvate levels in infantile autistic children by László, A, Horváth, E, Eck, E, Fekete, M

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Diversity of cystathionine β-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion by Vyletal, Petr, Sokolová, Jitka, Cooper, David N., Kraus, Jan P., Krawczak, Michael, Pepe, Guglielmina, Rickards, Olga, Koch, Hans G., Linnebank, Michael, Kluijtmans, Leo A. J., Blom, Henk J., Boers, Godfried H. J., Gaustadnes, Mette, Skovby, Flemming, Wilcken, Bridget, Wilcken, David E. L., Andria, Generoso, Sebastio, Gianfranco, Naughten, Eileen R., Yap, Sufin, Ohura, Toshihiro, Pronicka, Ewa, Laszlo, Aranka, Kožich, Viktor

“…Homozygosity or compound heterozygosity for the c.833T>C transition (p.I278 T) in the cystathionine beta‐synthase (CBS) gene represents the most common cause…”
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Metabolism of carnitine in phenylacetic acid-treated rats and in patients with phenylketonuria by Fischer, Gabor M., Nemeti, Balazs, Farkas, Viktoria, Debreceni, Balazs, Laszlo, Aranka, Schaffer, Zsuzsa, Somogyi, Csilla, Sandor, Attila

“…The effect of metabolites accumulating in phenylketonuria (PKU) was investigated on carnitine metabolism in rats and in patients with PKU. Of phenylacetic acid…”
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Corrigendum to ‘Metabolism of carnitine in phenylacetic acid-treated rats and in patients with phenylketonuria’: [ Biochimica et Biophysica Acta, 1501 (2000) 200–210] by Fischer, Gabor M., Nemeti, Balazs, Farkas, Viktoria, Debreceni, Balazs, Laszlo, Aranka, Schuler, Agnes, Somogyi, Csilla, Sandor, Attila

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The effect of a Pro28Thr point mutation on the local structure and stability of human galactokinase enzyme—a theoretical study by Jójárt, Balázs, Szőri, Milán, Izsák, Róbert, Marsi, István, László, Aranka, Csizmadia, Imre G., Viskolcz, Béla

“…Galactokinase is responsible for the phosphorylation of α- d -galactose, which is an important step in the metabolism of the latter. Malfunctioning of…”
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Clinical, radiological and genetic aspects of leukodystrophies by László, A, Elpeleg, On, Horváth, K, Jakobs, C, Kóbor, J, Gal, A, Barsi, P, Kelemen, A, Saracz, J, Svékus, A, Tegzes, A, Vörös, E

“…The authors summarize the pathomechanism of the myelination process, the clinical, radiological and the genetical aspects of the leukodystrophies, as in 18q…”
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Impaired Microbicidal Capacity of Mononuclear Phagocytes From Patients With Type I Gaucher Disease: Partial Correction by Enzyme Replacement Therapy by MARODI, L, KAPOSZTA, R, TOTH, J, LASZLO, A

“…The higher susceptibility to serious bacterial infections in patients with Gaucher disease (GD) may be due in part to defective function of phagocytic cells…”
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A survey of the newborn populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan for the G985 variant allele with haplotype analysis at the medium chain acyl-CoA dehydrogenase gene locus : Clinical and evolutionary consideration by TANAKA, K, GREGERSEN, N, SANTER, R, FRANCOIS, B, PRONICKA, E, LASZLO, A, KMOCH, S, KREMENSKY, I, KALAYDJICVA, L, OZALP, I, ITO, M, RIBES, A, KIM, J, KØLVRAA, S, WINTER, V, EIBERG, H, MARTINEZ, G, DEUFEL, T, LEIFERT, B

“…Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is an inborn error of fatty acid metabolism. It is one of the most frequent genetic metabolic disorders…”
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MICROBICIDAL CAPACITY OF PHAGOCYTIC CELLS FROM PATIENTS WITH TYPE I GAUCHER DISEASE. 1057 by Maródi, László, Káposzta, Rita, Tóth, Judit, László, Aranka

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