Zobrazeno 1 - 10 of 655 pro vyhledávání: '"Poupetova, H."'
1
Akademický článek
LysoGb3 quantification facilitates phenotypic categorization of Fabry disease patients: Insights gained by a novel MS/MS method.
Autor: Kuchar L; Research Unit for Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic. Electronic address: ladislav.kuchar@lf1.cuni.cz., Berna L; Research Unit for Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic., Poupetova H; Research Unit for Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic., Ledvinova J; Research Unit for Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic., Ruzicka P; Research Unit for Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic., Dostalova G; Second Department of Internal Cardiovascular Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic., Reichmannova S; Research Unit for Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic., Asfaw B; Research Unit for Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic., Linhart A; Second Department of Internal Cardiovascular Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic., Sikora J; Research Unit for Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic; Institute of Pathology, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic. Electronic address: jakub.sikora@lf1.cuni.cz.
Publikováno v: Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2024 Jul 15; Vol. 561, pp. 119824. Date of Electronic Publication: 2024 Jun 19.
Zobrazit plný text záznamu
2
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
3
Genotype-phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II
Autor: Dvorakova, L., Vlaskova, H., Sarajlija, A., Ramadza, D. P., Poupetova, H., Hruba, E., Hlavata, A., Bzduch, V., Peskova, K., Storkanova, G., Kecman, B., Djordjevic, M., Baric, I., Fumic, K., Barisic, I., Reboun, M., Kulhanek, J., Zeman, J., Magner, M.
Mucopolysaccharidosis type II (Hunter syndrome, MPS II, OMIM 309900) is an X-linked lysosomal storage disorder caused by deficiency of iduronate-2-sulfatase (IDS). We analyzed clinical and laboratory data from 44 Slavic patients with this disease. In
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::5fbce75e1e5dad676a5440aefa1cf086
https://www.bib.irb.hr/1170593
Zobrazit plný text záznamu
4
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
5
Akademický článek
NT-proBNP Reflects Left Ventricular Hypertrophy Rather than Left Ventricular Dilatation or Systolic Dysfunction in Patients with Fabry Disease.
Autor: Gatterer, Constantin1 (AUTHOR) constantin.gatterer@meduniwien.ac.at, Beitzke, Dietrich2 (AUTHOR), Sunder-Plassmann, Gere3 (AUTHOR), Friedl, Maximilian1 (AUTHOR) senta.graf@meduniwien.ac.at, Hohensinner, Philipp1 (AUTHOR), Mann, Christopher1 (AUTHOR), Ponleitner, Markus4 (AUTHOR), Graf, Senta1 (AUTHOR), Lenz, Max1 (AUTHOR) max.lenz@meduniwien.ac.at
Publikováno v: Journal of Clinical Medicine. Oct2024, Vol. 13 Issue 19, p5953. 15p.
Zobrazit plný text záznamu
6
Akademický článek
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Autor: Yanus, Grigoriy A.1 (AUTHOR) octavedoctor@yandex.ru, Suspitsin, Evgeny N.2,3 (AUTHOR) evgeny.suspitsin@gmail.com, Imyanitov, Evgeny N.2,3 (AUTHOR) evgeny@imyanitov.spb.ru
Publikováno v: International Journal of Molecular Sciences. Sep2024, Vol. 25 Issue 17, p9335. 32p.
Zobrazit plný text záznamu
7
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
8
Akademický článek
Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations.
Autor: Musalkova D; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Ke Karlovu 2, 120 00, Prague 2, Czech Republic., Majer F; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Ke Karlovu 2, 120 00, Prague 2, Czech Republic. filip.majer@lf1.cuni.cz., Kuchar L; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Ke Karlovu 2, 120 00, Prague 2, Czech Republic., Luksan O; Laboratory of Experimental Hepatology, Institute of Clinical and Experimental Medicine, Prague, Czech Republic., Asfaw B; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Ke Karlovu 2, 120 00, Prague 2, Czech Republic., Vlaskova H; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Ke Karlovu 2, 120 00, Prague 2, Czech Republic., Storkanova G; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Ke Karlovu 2, 120 00, Prague 2, Czech Republic., Reboun M; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Ke Karlovu 2, 120 00, Prague 2, Czech Republic., Poupetova H; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Ke Karlovu 2, 120 00, Prague 2, Czech Republic., Jahnova H; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Ke Karlovu 2, 120 00, Prague 2, Czech Republic., Hulkova H; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Ke Karlovu 2, 120 00, Prague 2, Czech Republic., Ledvinova J; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Ke Karlovu 2, 120 00, Prague 2, Czech Republic., Dvorakova L; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Ke Karlovu 2, 120 00, Prague 2, Czech Republic., Sikora J; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Ke Karlovu 2, 120 00, Prague 2, Czech Republic., Jirsa M; Laboratory of Experimental Hepatology, Institute of Clinical and Experimental Medicine, Prague, Czech Republic., Vanier MT; INSERM U820, Lyon, France.; Laboratoire Gillet-Mérieux, Lyon University Hospitals (HCL), Lyon, France., Hrebicek M; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Ke Karlovu 2, 120 00, Prague 2, Czech Republic. martin.hrebicek@lf1.cuni.cz.
Publikováno v: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2020 Apr 05; Vol. 15 (1), pp. 85. Date of Electronic Publication: 2020 Apr 05.
Zobrazit plný text záznamu
9
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
10
Akademický článek
Clinical and genetic analysis of Niemann-Pick disease type C with a novel NPC1 variant.
Autor: Neissi, Mostafa1,2,3 iammostafaneissi@gmail.com, Al-Badran, Adnan Issa4, Mohammadi-Asl, Misagh3, Al-Badran, Raed Abdulelah5 raedalbadran98@gmail.com, Sheikh-Hosseini, Motahareh3,6, Roghani, Mojdeh3, Mohammadi-Asl, Javad3,7
Publikováno v: Journal of Rare Diseases. 7/8/2024, Vol. 3 Issue 1, p1-9. 9p.
Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání

Omezení vyhledávání
Plný text Recenzováno Digitální knihovna AV ČR
Zdroje