Zobrazeno 1 - 10
of 37
pro vyhledávání: '"Aranka, László"'
Autor:
Milan Szori, Béla Viskolcz, Aranka László, Róbert Izsák, István Marsi, Balázs Jójárt, Imre G. Csizmadia
Publikováno v:
Journal of Molecular Modeling. 17:2639-2649
Galactokinase is responsible for the phosphorylation of α-d-galactose, which is an important step in the metabolism of the latter. Malfunctioning of galactokinase due to a single point mutation causes cataracts and, in serious cases, blindness. This
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4210b076e7a503a09b38c1e90cba56f3
https://doi.org/10.1007/s00894-011-0958-y
https://doi.org/10.1007/s00894-011-0958-y
Autor:
Michael Krawczak, Mette Gaustadnes, Gianfranco Sebastio, Viktor Kozich, Hans G. Koch, Jitka Sokolová, Michael Linnebank, David Neil Cooper, Bridget Wilcken, Toshihiro Ohura, Ewa Pronicka, Generoso Andria, Guglielmina Pepe, Olga Rickards, Sufin Yap, Leo A. J. Kluijtmans, David E.L. Wilcken, E. R. Naughten, Petr Vyletal, Henk J. Blom, Godfried H.J. Boers, Jan P. Kraus, Flemming Skovby, Aranka László
Publikováno v:
Vyletal, P, Sokolová, J, Cooper, DN, Kraus, JP, Krawczak, M, Pepe, G, Rickards, O, Koch, HG, Kluijtmans, LAJ, Blom, HJ, Boers, GHJ, Gaustadnes, M, Skovby, F, Wilcken, B, Wilcken, DEL, Andria, G, Sebastio, G, Naughten, ER, Yap, S, Ohura, T, Pronicka, E, Laszlo, A & Kožich, V 2007, ' Diversity of cystathionine ß-synthase haplotypes bearing the most common homocystinuria mutation c.833T >C: a possible role for gene conversion. ', Human Mutation, vol. 28, no. 3, pp. 255-264 . https://doi.org/10.1002/humu.20430
Human Mutation, 28, 3, pp. 255-64
Human Mutation
Human Mutation, 28, 255-64
Human Mutation, 28, 3, pp. 255-64
Human Mutation
Human Mutation, 28, 255-64
Contains fulltext : 52383.pdf (Publisher’s version ) (Closed access) 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 of pyridoxine-respons
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b3dba13c26512ce843024099efb3be2
https://doi.org/10.1002/humu.20430
https://doi.org/10.1002/humu.20430
Autor:
Éva Sallay, Cs. Somogyi, A. Várkonyi, Barry Wolf, Emoke Endreffy, É. Á. Schuler, Aranka László, Z. Havass, K. P. Jansen
Publikováno v:
Journal of Inherited Metabolic Disease. 26:693-698
Summary: From 1989 to 2001, 1 336 145 newborns were screened for biotinidase deficiency in Hungary. Fifty-eight children with the disorder were identified as enzyme-deficient. We have characterized the clinical and biochemical features and mutations
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::962bac094eeec5d1a698b73342d1c96c
https://doi.org/10.1023/b:boli.0000005622.89660.59
https://doi.org/10.1023/b:boli.0000005622.89660.59
Autor:
Kálmán Gyurkovits, József Stankovics, Ágnes Szabó, Aranka László, Emoke Endreffy, Krisztina Németh, György Fekete, Eniko Solyom, Tamás Dolinay, István Raskó
Publikováno v:
International Journal of Human Genetics. 2:41-44
The frequency of ∆ F508 mutation in the CFTR gene was compared in Gypsy and European samples from 3 different geographical regions of Hungary. The frequency of ∆ F508 mutation in a total of 21 Gypsy patients was 43%, with 0.144 homozygosity index
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::495ec7d90ce20b78f1e1b98e9224ea05
https://doi.org/10.1080/09723757.2002.11885782
https://doi.org/10.1080/09723757.2002.11885782
Autor:
Aranka, László, Mária, Rózsa, Eva, Sallay, László, Tiszlavicz, Agnes, Janovszky, Agnes, Várkonyi, Eszter, Karg, Gyula, Wittmann, Sándor, Túri, Magdalena, Ugarte
Publikováno v:
Ideggyogyaszati szemle. 66(11-12)
Before the introduction of the NTBC treatment (Orfadine) from two tyrosinemic Hungarian families 1-3 tyrosinemic homozygous male patients died of hepatocellular carcinoma and one patient of hepatocellular carcinoma combined with clear cell renal aden
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0d921f0aa15dd1d65beff8114f551b32
https://pubmed.ncbi.nlm.nih.gov/24555242
https://pubmed.ncbi.nlm.nih.gov/24555242
Autor:
László Kovács, Attila Kovacs, George D. Georgeson, Károly Streitman, Aranka László, B. J. Szony
Publikováno v:
European Journal of Pediatrics. 160:478-482
We investigated natural killer (NK) cell cytotoxicity in healthy preterm and full-term newborns in comparison to adults, to elucidate the possible role of delivery mode in influencing the NK activity and to evaluate the NK activity in severe neonatal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c379af989e75e011b258c9ca5bccadd
https://doi.org/10.1007/s004310100773
https://doi.org/10.1007/s004310100773
Autor:
Stanislav Kmoch, Luba Kalaydjicva, Steen Kølvraa, Kay Tanaka, Gemma Martinez, Niels Gregersen, Ivo Kremensky, Vibeke Winter, Ewa Pronicka, René Santer, Aranka László, Thomas Deufel, Hans Eiberg, Michinori Ito, Barbara Leifert, Julie Kim, Imran Ozalp, Antonia Ribes, Baudouin Francois
Publikováno v:
Pediatric Research. 41:201-209
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 among Caucasian children. The G985 allele represented 90% of all the variant alleles of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::eaa9b6331a9c0e09ba96bca4278f71c6
https://doi.org/10.1203/00006450-199702000-00008
https://doi.org/10.1203/00006450-199702000-00008
Autor:
Aranka, László, Zoltán, Novák, Ilona, Szőllősi-Varga, Du Quai, Hai, Ágnes, Vetró, Attila, Kovács
Publikováno v:
Ideggyogyaszati szemle. 66(1-2)
Early infantile autism is a severe form of childhood psychiatric disease with characteristic symptoms. Hyperserotoninaemia in 43.5%, lactic acidosis 43% and hyperpyruvataemia in 30% were biochemically demonstrated in autistic children. Our earlier re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f7632739e9c2d4f40e4106457e5c573f
https://pubmed.ncbi.nlm.nih.gov/23607226
https://pubmed.ncbi.nlm.nih.gov/23607226
Autor:
Aranka, László, László, Török, Sarolta, Raffai, Eva, Török, Eva, Sallay, Emoke, Endreffy, László, Morvai, J K Ploos, van Amstel
Publikováno v:
Ideggyogyaszati szemle. 65(1-2)
AIM was to detect the mutations of alpha-galactosidase A gene in two Hungarian Fabry patients.Mutation analysis was performed by polymerase chain reaction (PCR) sequencing of the seven exons and adjacent introns of the alpha-galactosidase A gene.Case
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::55705b98bdc470b149ea8567f17504fe
https://pubmed.ncbi.nlm.nih.gov/22338844
https://pubmed.ncbi.nlm.nih.gov/22338844
Autor:
Balázs, Jójárt, Milán, Szori, Róbert, Izsák, István, Marsi, Aranka, László, Imre G, Csizmadia, Béla, Viskolcz
Publikováno v:
Journal of molecular modeling. 17(10)
Galactokinase is responsible for the phosphorylation of α-D: -galactose, which is an important step in the metabolism of the latter. Malfunctioning of galactokinase due to a single point mutation causes cataracts and, in serious cases, blindness. Th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4ac87204a9ff864f2f3d75658664feb5
https://pubmed.ncbi.nlm.nih.gov/21264483
https://pubmed.ncbi.nlm.nih.gov/21264483