Zobrazeno 1 - 10
of 147
pro vyhledávání: '"Sanda H"'
Autor:
Katarina Šikić, Tessa M. A. Peters, Udo Engelke, Danijela Petković Ramadža, Tamara Žigman, Ksenija Fumić, Maša Davidović, Sanda Huljev Frković, Tibor Körmendy, Diego Martinelli, Antonio Novelli, Francesca Romana Lepri, Ron A. Wevers, Ivo Barić
Publikováno v:
JIMD Reports, Vol 65, Iss 6, Pp 361-370 (2024)
Abstract Huppke–Brendel syndrome (HBS) is an autosomal recessive disorder caused by SLC33A1 mutations, a gene coding for the acetyl‐CoA transporter‐1 (AT‐1). So far it has been described in nine pediatric and one adult patient. Therapeutic tr
Externí odkaz:
https://doaj.org/article/e187b6f8a49a4393abc192ac0ae2ecfa
Autor:
Mlawa, G., Meneissy, N., Rehmani, H., Hussain, M., Sanda, H., Patel, S., Berhane, S., Mahammud, B., Lingwood, N., Azhar, S., Elshowaya, S.
Publikováno v:
In Diabetes Research and Clinical Practice April 2022 186 Supplement 1
Publikováno v:
Biomedicines, Vol 12, Iss 8, p 1642 (2024)
Because of the unpredictable efficacy of methotrexate (MTX) in the treatment of juvenile idiopathic arthritis (JIA), the possibility of a favourable outcome is reduced in more than 30% of patients. To investigate the possible influence of glutathione
Externí odkaz:
https://doaj.org/article/a31a966f11f045ffb966eba7b2217c57
Autor:
Margareta Fistrek Prlic, Sanda Huljev Frkovic, Bodo Beck, Ivana Tonkovic Durisevic, Stela Bulimbasic, Marijana Coric, Lovro Lamot, Ema Ivandic, Ivana Vukovic Brinar
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
IntroductionGenetic kidney diseases are underdiagnosed; namely, from 7% to 40% of patients suffering from chronic kidney disease (CKD) can carry a pathogenic variant, depending on population characteristics. Hereditary tubulointerstitial kidney disea
Externí odkaz:
https://doaj.org/article/87de7d133de64c65a9214404dda0a93a
Autor:
Dorian Tješić-Drinković, Ivan Bambir, Duška Tješić-Drinković, Andrea Vukić Dugac, Ivan Bambiar, Maja Baretić, Latinka Basara, Ana Bogdanić, Dolores Bzik, Fedža Džubur, Vesna Elveđi Gašparović, Nataša Firis, Sanda Huljev Frković, Nevena Krnić, Ivana Kuhtić, Ana Kunović, Tatjana Jalušić Glunčić, Mateja Janković Makek, Agata Ladić, Ivana Lalić, Gorana Levačić, Ivona Markelić, Jasna Markušić, Ana Merkler, Iveta Merčep, Petra Mihelčić, Tomislava Milinković, Tihana Odobašić Palković, Lana Omerza, Eva Pavić, Sanja Perić, Sanja Pleško, Gorazd Poje, Ivana Rako, Ivana Todorić, Katarina Vuković Đurić, Zrinka Šmuljić
Publikováno v:
Liječnički vjesnik, Vol 145, Iss Supp 5, Pp 121-130 (2023)
Cistična fibroza najčešća je nasljedna bolest, koja skraćuje životni vijek, a uzrokuje je defekt u genu za transmembranski regulator provodljivosti cistične fibroze (eng. cystic fibrosis transmembrane regulator – CFTR). Poremećena je homeos
Externí odkaz:
https://doaj.org/article/3a305dce8d434aaeaf06dd1ebc55450d
Akademický článek
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Akademický článek
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Publikováno v:
Croatian Journal of Food Science and Technology, Vol 14, Iss 1, Pp 141-155 (2022)
Different models of scientific communication are becoming more universal and the opportunities of publishing are more numerous and sophisticated. This study analyzed the category "Food Science & Technology" in the Journal Citation Reports (JCR) datab
Externí odkaz:
https://doaj.org/article/c50e7406fb5a42c8ade367448a48a1bc
Publikováno v:
Human Genome Variation, Vol 8, Iss 1, Pp 1-6 (2021)
Abstract Here, we report a novel case of a male patient with a hemizygous missense variant in STAG2 (p.Tyr159His) resulting in Mullegama–Klein–Martinez syndrome (MKMS), a rare X-linked cohesinopathy. He shares distinct clinical features with a pr
Externí odkaz:
https://doaj.org/article/1b2661d1b831420e84fd3a75d670db76
Autor:
Cosmin Bejan, Sanda Harabagiu
Publikováno v:
Computational Linguistics, Vol 40, Iss 2 (2021)
Externí odkaz:
https://doaj.org/article/855f75cccc6e4469977048cf329fcdd9