Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Anna, Hlavata"'
Autor:
Anna Tylki-Szymańska, Zsuzsanna Almássy, Violetta Christophidou-Anastasiadou, Daniela Avdjieva-Tzavella, Ingeborg Barisic, Rimante Cerkauskiene, Goran Cuturilo, Maja Djiordjevic, Zoran Gucev, Anna Hlavata, Beata Kieć-Wilk, Martin Magner, Ivan Pecin, Vasilica Plaiasu, Mira Samardzic, Dimitrios Zafeiriou, Ioannis Zaganas, Christina Lampe
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-16 (2022)
Abstract Background Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by defects in genes coding for different lysosomal enzymes which degrade glycosaminoglycans. Impaired lysosomal degradation causes cell dysfunction lead
Externí odkaz:
https://doaj.org/article/c70c1cc31551430c8564d28031134aef
Autor:
Katarina Jurickova, Petra Jungova, Robert Petrovic, Slavomira Mattosova, Tereza Hlavata, Ludmila Kostalova, Anna Hlavata
Publikováno v:
Journal of Personalized Medicine; Volume 12; Issue 6; Pages: 922
Fabry disease (FD, OMIM#301500) is a rare inborn error of the lysosomal enzyme α-galactosidase (α-Gal A, EC 3.2.1.22) and results in progressive substrate accumulation in tissues with a wide range of clinical presentations. Despite the X-linked inh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b160d9ddd02c9c785984233ebc129da2
https://pubmed.ncbi.nlm.nih.gov/35743707
https://pubmed.ncbi.nlm.nih.gov/35743707
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4ba31c29d344256e0e1c9ba169e9f6ef
https://pubmed.ncbi.nlm.nih.gov/23758643
https://pubmed.ncbi.nlm.nih.gov/23758643