Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Martina Nemethova"'
Autor:
Andrea Zatkova, Martina Nemethova
Publikováno v:
Acta Facultatis Pharmaceuticae Universitatis Comenianae, Vol 62, Iss s11, Pp 27-32 (2015)
Alkaptonuria (AKU) is the first described inborn error of metabolism and a classical example of rare autosomal recessive disease. AKU patients carry homozygous or compound heterozygous mutations of the gene coding for enzyme homogentisate dioxygenase
Autor:
Andrea Zatkova, Srinivasan Sakthivel, Ludevit Kadasi, Milan Surovy, Martina Nemethova, Madurai P. Saravanan
Publikováno v:
Annals of Human Genetics. 78:155-164
Alkaptonuria (AKU) is an autosomal recessive disorder; caused by the mutations in the homogentisate 1, 2-dioxygenase (HGD) gene located on Chromosome 3q13.33. AKU is a rare disorder with an incidence of 1: 250,000 to 1: 1,000,000, but Slovakia and th
Autor:
László Kovács, Darina Durovcikova, Andrea Zatkova, M. Holobradá, Pozgayova S, Anna Bolcekova, Denisa Ilencikova, Gerinec A, Martina Nemethova, K. Husáková, Katarina Hlinkova, Pavlovicova Z, Anna Hlavatá, Ludevit Kadasi
Publikováno v:
Neoplasma. 60:655-665
Optic pathway gliomas (OPG) occur in 15% of patients with neurofibromatosis type 1 (NF1; OMIM 162200). Genotype-phenotype correlations in patients with NF1 may help to determine the risk group for developing complications such as OPG in coincidence w
Autor:
László Kovács, Anna Hlavatá, Andrea Zatkova, Ludevit Kadasi, Anna Bolcekova, Katarina Hlinkova, Denisa Ilencikova, Darina Durovcikova, Martina Nemethova
Publikováno v:
Annals of Human Genetics. 77:364-379
Summary We performed a complex analysis of the neurofibromatosis type 1 (NF1) gene in Slovakia based on direct cDNA sequencing supplemented by multiple ligation dependent probe amplification (MLPA) analysis. All 108 patients had cafe-au-lait spots, 8
Autor:
Richard Imrich, Shruthi K Bharadwaj, Hana Ayoob, Nicolas Sireau, Birgitta Olsson, G. Biolcati, Tom L. Blundell, Lakshminarayan R. Ranganath, Rangan Srinivasaraghavan, Anthony K Hall, Andrea Zatkova, Oliver Timmis, Kim Hanh Le Quan Sang, Fiammetta Sorge, Ludevit Kadasi, Charles Marques Lourenço, Caterina Aurizi, Mohammed Alsbou, Douglas E. V. Pires, Ronen Spiegel, Jan Radvanszky, Martina Nemethova, Kanakasabapathi Ramadevi, Annalisa Santucci, Robert Aquaron, Lia Milucci, Jozef Rovensky, Alessandro Mannoni, Berardino Porfirio, Silvia Sestini, Federica Genovese, David B. Ascher, James A. Gallagher, Christa van Kan
Publikováno v:
European journal of human genetics : EJHG. 24(1)
Alkaptonuria (AKU) is an autosomal recessive disorder caused by mutations in homogentisate-1,2-dioxygenase (HGD) gene leading to the deficiency of HGD enzyme activity. The DevelopAKUre project is underway to test nitisinone as a specific treatment to
Autor:
P. Sýkora, László Kovács, A. Bolčeková, K. Husáková, A. Hlavatá, Gerinec A, M. Holobradá, Andrea Zatkova, Martina Nemethova, Denisa Ilencikova
Publikováno v:
Acta Facultatis Pharmaceuticae Universitatis Comenianae, Vol 61, Iss 1 (2014)
Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant disorders with mainly mild cutaneous manifestations. Some patients with NF1, however, develop severe complications such as progressive optic pathway glioma, plexiform neurofi
Autor:
Hana Ayoob, Judith McCaffrey, Andrea Zatkova, Christa van Kan, Carin Junestrand, Jonathan C. Jarvis, Andrew T. Hughes, Kim-Hanh Le Quan Sang, Helen Bygott, Gordon A. Ross, Lakshminarayan R. Ranganath, Richard Imrich, Anthony K Hall, Dinny Laan, Trevor Cox, Peter Christensen, Mattias Rudebeck, James A. Gallagher, Nicolas Sireau, Torbjörn Kullenberg, Lennart Svensson, Eftychia E. Psarelli, Birgitta Olsson, Daniela Braconi, Federica Genovese, Richard Fitzgerald, Oliver Timmis, Jozef Rovensky, Martina Nemethova, Anna M. Milan, Arvid Cronlund, Annalisa Santucci, Johan Szamosi, John Dutton, M. C. Briggs
Publikováno v:
Annals of the rheumatic diseases. 75(2)
Background Alkaptonuria (AKU) is a serious genetic disease characterised by premature spondyloarthropathy. Homogentisate-lowering therapy is being investigated for AKU. Nitisinone decreases homogentisic acid (HGA) in AKU but the dose-response relatio
Autor:
Srinivasan, Sakthivel, Andrea, Zatkova, Martina, Nemethova, Milan, Surovy, Ludevit, Kadasi, Madurai P, Saravanan
Publikováno v:
Annals of human genetics. 78(3)
Alkaptonuria (AKU) is an autosomal recessive disorder; caused by the mutations in the homogentisate 1, 2-dioxygenase (HGD) gene located on Chromosome 3q13.33. AKU is a rare disorder with an incidence of 1: 250,000 to 1: 1,000,000, but Slovakia and th
Autor:
Martina, Nemethova, Anna, Bolcekova, Denisa, Ilencikova, Darina, Durovcikova, Katarina, Hlinkova, Anna, Hlavata, Laszlo, Kovacs, Ludevit, Kadasi, Andrea, Zatkova
Publikováno v:
Annals of human genetics. 77(5)
We performed a complex analysis of the neurofibromatosis type 1 (NF1) gene in Slovakia based on direct cDNA sequencing supplemented by multiple ligation dependent probe amplification (MLPA) analysis. All 108 patients had café-au-lait spots, 85% had
Autor:
Ludevit Kadasi, Jan Radvansky, Robert Aquaron, H Poláková, Andrea Zatkova, Tatiana Sedlackova, Ismail Dursun, Martina Nemethova, Jeannette L. Usher
Publikováno v:
JIMD Reports ISBN: 9783642257513
Enzymatic loss in alkaptonuria (AKU), an autosomal recessive disorder, is caused by mutations in the homogentisate 1,2 dioxygenase (HGD) gene, which decrease or completely inactivate the function of the HGD protein to metabolize homogentisic acid (HG
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::590eeba9621c6538be09bb7c14ead651
https://doi.org/10.1007/8904_2011_68
https://doi.org/10.1007/8904_2011_68