Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Nevenka Bratanič"'
Autor:
Stefan Blazina, Gašper Markelj, Maruša Debeljak, Anja Koren Jeverica, Nataša Toplak, Nevenka Bratanič, Marko Pokorn, Peter Kopač, Andreja Pikelj Pečnik, Mitja Košnik, Janez Jazbec, Marijana Kuhar, Alojz Ihan, Tadej Avčin
Publikováno v:
Zdravniški Vestnik, Vol 84, Iss 12 (2016)
Data from Slovene national primary immunodeficiency (PID) registry are presented. Besides clinical and genetic data of patients with PID, quality indicators in patient care are included. Data are systematically collected in Department of Allergology,
Externí odkaz:
https://doaj.org/article/9a3718912fbf4ac1b2a31f482272224f
Publikováno v:
Zdravniški Vestnik, Vol 84, Iss 3 (2015)
Cystic fibrosis (CF) is the most common autosomal recessive lethal hereditary disorder among whites. Survival of patients with CF has progressively improved over the last four decades.As life expectancy has been greatly extended, complications like o
Externí odkaz:
https://doaj.org/article/655a146d4a66470f9e9cde1e29f7be67
Publikováno v:
Zdravniški Vestnik, Vol 79, Iss 2 (2010)
Acute hyperammonaemia is a consequence of inborn defects of urea cycle or acute liver damage. Clinical presentation varies considerably with the age of the af ected individual and includes nausea, vomiting, neuro-psychiatric symptoms, convulsions and
Externí odkaz:
https://doaj.org/article/fb6739b571d6463eb559fdac65d91bd6
Autor:
Nevenka Bratanič, Marjeta Maroša-Meolic, Nives Hočevar, Mojca Žerjav-Tanšek, Nataša Uršič-Bratina, Ciril Kržišnik, Tadej Battelino
Publikováno v:
Zdravniški Vestnik, Vol 72, Iss 3 (2003)
Background. Graves disease is the most common cause of hyperthyrosis in children and adolescents. The optimal treatment for children with AH remains controversial. The patients are usually treated with antithyroid drugs in combination with thyroxine,
Externí odkaz:
https://doaj.org/article/29beb332b3444c3b8b63c96fb493905e
Autor:
Tadej Battelino, Ajda Skarlovnik, Vlasta Dragoš, Matija Cevc, Nevenka Bratanič, Urh Groselj, Matej Mlinaric
Publikováno v:
Frontiers in Pediatrics, Vol 8 (2020)
Frontiers in Pediatrics
Frontiers in Pediatrics
Homozygous familial hypercholesterolemia (HoFH) is a rare inherited metabolic disorder, frequently leading to an early cardiovascular death if not adequately treated. Since standard medications usually fail to reduce LDL-cholesterol (LDL-C) levels sa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10e5c15e9fbea43db622926690286f71
https://www.frontiersin.org/article/10.3389/fped.2020.567895/full
https://www.frontiersin.org/article/10.3389/fped.2020.567895/full
Autor:
Maruša Debeljak, Tadej Avcin, Alojz Ihan, Peter Kopač, Nataša Toplak, Nevenka Bratanič, Janez Jazbec, Štefan Blazina, Anja Koren Jeverica, Gašper Markelj
Publikováno v:
Journal of Clinical Immunology. 36:764-773
An abnormal regulation of immune responses leads to autoimmune and inflammatory manifestations in patients with primary immunodeficiencies (PIDs). The objective of our study was to evaluate the frequency of non-infectious and non-malignant manifestat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5fc3fc81cf4fc9eb0d3a340665579dff
https://doi.org/10.1007/s10875-016-0330-1
https://doi.org/10.1007/s10875-016-0330-1
Publikováno v:
Therapeutic Apheresis and Dialysis. 20:318-321
Hajdu-Cheney syndrome (HJCYS) is a rare, autosomal dominant, skeletal disorder caused by mutations in the NOTCH2 signaling pathway for which genetic testing has recently become available. Renal abnormalities are associated in at least 10% of cases. W
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a6b291ce0fdeac68768345abb5d10869
https://doi.org/10.1111/1744-9987.12444
https://doi.org/10.1111/1744-9987.12444
Autor:
Tadej Battelino, Katarina Trebušak Podkrajšek, Urh Groselj, Jernej Kovač, Gašper Klančar, Natasa Bratina, Nevenka Bratanič
Publikováno v:
Journal of the American College of Cardiology. 66:1250-1257
Background Individuals with familial hypercholesterolemia (FH) who are untreated have up to 100-fold elevated risk for cardiovascular complications compared with those who are unaffected. Data for identification of FH with a universal screening for h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9347edb37c02606687ffb29980dc2b9e
https://doi.org/10.1016/j.jacc.2015.07.017
https://doi.org/10.1016/j.jacc.2015.07.017
Publikováno v:
Therapeutic apheresis and dialysis : official peer-reviewed journal of the International Society for Apheresis, the Japanese Society for Apheresis, the Japanese Society for Dialysis Therapy. 20(3)
Hajdu-Cheney syndrome (HJCYS) is a rare, autosomal dominant, skeletal disorder caused by mutations in the NOTCH2 signaling pathway for which genetic testing has recently become available. Renal abnormalities are associated in at least 10% of cases. W
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1fac67ed12f2afd40f58c54e25326a95
https://pubmed.ncbi.nlm.nih.gov/27312922
https://pubmed.ncbi.nlm.nih.gov/27312922
Autor:
Maruša Debeljak, Anja Koren Jeverica, Nataša Toplak, Alojz Ihan, Mitja Košnik, Marko Pokorn, Marijana Kuhar, Tadej Avcin, Andreja Pikelj Pečnik, Janez Jazbec, Gašper Markelj, Štefan Blazina, Nevenka Bratanič, Peter Kopač
Publikováno v:
Slovenian Medical Journal. 84
Data from Slovene national primary immunodeficiency (PID) registry are presented. Besides clinical and genetic data of patients with PID, quality indicators in patient care are included. Data are systematically collected in Department of Allergology,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::164a7e1fa00beaa67c8ac959b5ca81cf
https://doi.org/10.6016/zdravvestn.1321
https://doi.org/10.6016/zdravvestn.1321