Publikační činnost ÚDMP v roce 2012

Kapitoly v monografiích

  1. Ladislav Kuchař, Befekadu Asfaw & Jana Ledvinová. Tandem mass spectrometry of sphingolipids: Application in metabolic studies and diagnosis of inherited disorders of sphingolipid metabolism. Applications of Tandem Mass Spectrometry - its Principles and Applications. INTECH, Rijeka IN PRESS

Články v impaktovaných časopisech

  1. Baresova V, Skopova V, Sikora J, Patterson D, Sovova J, Zikanova M, Kmoch S. Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency. Hum Mol Genet. 2011 Dec 30. IN PRESS IF(2010)=8,058

  2. Elshorbagy AK, Smith AD, Kozich V, Refsum H. Cysteine and Obesity. Obesity (Silver Spring). 2011 May 5. IN PRESS IF(2010)=3,531

  3. Elshorbagy AK, Kozich V, Smith AD, Refsum H. Cysteine and obesity: consistency of the evidence across epidemiologic, animal and cellular studies. Curr Opin Clin Nutr Metab Care. 2012 Jan;15(1):49-57. IF(2010)=4,333

  4. Hnizda A, Jurga V, Rakova K, Kozich V. Cystathionine beta-synthase mutants exhibit changes in protein unfolding: conformational analysis of misfolded variants in crude cell extracts. Journal of Inherited Metabolic Disease. IN PRESS. IF(2010)=3,808

  5. Honzik T, Tesarova M, Magner M, Mayr J, Jesina P, Vesela K, Wenchich L, Szentivanyi K, Hansikova H, Sperl W, Zeman J: Neonatal onset of mitochondrial disorders in 129 patients: clinical and laborator characteristics and a new approach to diagnosis. J Inherit Metab Dis IN PRESS IF(2010)=3,808

  6. Hulkova, H. and M. Elleder, Adipocytes participate in storage in alpha-galactosidase deficiency (Fabry disease). J Inherit Metab. Published on line. IF(2010)=3,808

  7. Jurecka, A., B. Stiburkova, J. Krijt, W. Gradowska, and A. Tylki-Szymanska, Xanthine dehydrogenase deficiency with novel sequence variations presenting as rheumatoid arthritis in a 78-year-old patient. J Inherit Metab Dis Published on line. IF(2010)=3,808

  1. van de Steeg E, Stránecký V, Hartmannová H, Nosková L, Hřebíček M, Wagenaar E, van Esch A, de Waart DR, Oude Elferink RP, Kenworthy KE, Sticová E, Al-Edreesi M, Knisely AS, Kmoch S, Jirsa M, Schinkel AH. Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver.J Clin Invest. 2012 Jan 9. IN PRESS IF(2010)= 14.152

  2. Stiburkova B, Krijt J, Vyletal P, Bartl J, Gerhatova E, Korinek M, Sebesta I. Novel mutations in xanthine dehydrogenase/oxidase cause severe hypouricemia: Biochemical and molecular genetic analysis in two Czech families with xanthinuria type I. Clin Chim Acta. 2012 Jan 18;413(1-2):93-9. IF(2010)=2,389

  1. Studeny P, Jirsova K, Kuchynka P, Liskova P. Descemet membrane endothelial keratoplasty with a stromal rim (DMEK-S) in the treatment of posterior polymorphous corneal dystrophy. Indian J Ophthalmology. 2012 Jan;60(1):59-60. IF(2010)=0,827

  2. Vozdek R, Hnizda A, Krijt J, Kostrouchova M, Kozich V. Novel structural arrangement of nematode cystathionine beta-synthases: characterization of Caenorhabditis elegans CBS-1. Biochem J. 2012 Jan 13. IN PRESS IF(2010)=5.016


(Poslední aktualizace dne 1. února 2012)