Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Larisa Stolnaja"'
Autor:
Martina Živná, Gabriela Dostálová, Veronika Barešová, Dita Mušálková, Ladislav Kuchař, Befekadu Asfaw, Helena Poupětová, Hana Vlášková, Tereza Kmochová, Petr Vyletal, Hana Hartmannová, Kateřina Hodaňová, Viktor Stránecký, Lenka Steiner-Mrázová, Aleš Hnízda, Martin Radina, Miroslav Votruba, Jana Sovová, Helena Trešlová, Larisa Stolnaja, Petra Reková, Lenka Roblová, Eva Honsová, Helena Hůlková, Ivan Rychlík, Anthony J. Bleyer, Aleš Linhart, Jakub Sikora, Stanislav Kmoch
BackgroundClassic Fabry disease (FD) is caused by GLA mutations that result in enzymatic deficiency of alpha-galactosidase A (AGAL), lysosomal storage of globotriaosylceramide, and a resulting multisystemic disease. In non-classic later-onset FD, pat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3ede51a9102b69783bdeaf4b7f83cc9
https://hdl.handle.net/20.500.14178/1711
https://hdl.handle.net/20.500.14178/1711
Autor:
Anna Hlavatá, M. Hrebicek, Clare E. Beesley, Linda Berná, Hana Vlaskova, Helena Myskova, Lenka Dvorakova, Alzbeta Vazna, Bryan Winchester, Helena Poupetova, Jiri Zeman, Martin Magner, Larisa Stolnaja, Michaela Bouckova
Publikováno v:
American Journal of Medical Genetics. Part a
Mucopolysaccharidosis type I (MPS I) is an autosomal recessive lysosomal storage disorder that is caused by a deficiency of the enzyme α-l-iduronidase (IDUA). Of the 21 Czech and Slovak patients who have been diagnosed with MPS I in the last 30 year
Autor:
Jakub Minks, Ivan Rychlik, Lenka Dvorakova, Vernerová Z, Larisa Stolnaja, M. Hrebicek, Blanka Stiburkova, Ivan Sebesta
Publikováno v:
Nucleosides, Nucleotides and Nucleic Acids. 27:648-655
Female carriers of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency have somatic cell mosaicism of HPRT activity and are healthy. We report a 50-year-old woman without gout or nephrolithiasis. She was never on allopurinol. Normal seru
Autor:
M. Hrebicek, Larisa Stolnaja, Laura Vilarinho, Eva Hruba, Evzenie Tietzeova, António Amorim, Lenka Dvorakova, Luísa Azevedo
Publikováno v:
Molecular Genetics and Metabolism. 78:152-157
Ornithine transcarbamylase (OTC) deficiency, transmitted as an X-linked trait, is the most common disorder of the urea cycle. At least 3.5% out of more than 230 mutations consist of large gene deletions, involving one or more exons. Only in 78% of OT
Autor:
Lenka Dvořáková, Larisa Stolnaja, Josef Mikuláštík, Milan Elleder, Eva Košťálová, Helena Poupětová, Hana Vlaskova, Helena Hůlková, Rastislav Druga
Publikováno v:
Acta Neuropathologica
This is the first neuropathology report of a male patient (born 1960–died 1975) with an extremely rare, atypical variant of CLN2 that has been diagnosed only in five families so far. The clinical history started during his preschool years with rela
Autor:
Szilvia Taskó, Katerina Hodanova, Larisa Stolnaja, László Maródi, M. Hrebicek, Lenka Dvorakova, Melinda Erdos, Anita Palicz
The aim of this study was to identify mutations in the gene encoding for lysosomal beta-glucocerebrosidase (GBA; gene symbol, GBA) in Hungarian patients with Gaucher disease (GD), and to study genotype-phenotype relationships. Genotypes and allele va
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1728edf11c9355485593d18fb6fddf56