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17 results

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Page 1
Congenital secretory diarrhoea caused by activating germline mutations in GUCY2C.
Müller T, Rasool I, Heinz-Erian P, Mildenberger E, Hülstrunk C, Müller A, Michaud L, Koot BG, Ballauff A, Vodopiutz J, Rosipal S, Petersen BS, Franke A, Fuchs I, Witt H, Zoller H, Janecke AR, Visweswariah SS. Müller T, et al. Among authors: rosipal s. Gut. 2016 Aug;65(8):1306-13. doi: 10.1136/gutjnl-2015-309441. Epub 2015 May 20. Gut. 2016. PMID: 25994218 Free PMC article.
Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea.
Heinz-Erian P, Müller T, Krabichler B, Schranz M, Becker C, Rüschendorf F, Nürnberg P, Rossier B, Vujic M, Booth IW, Holmberg C, Wijmenga C, Grigelioniene G, Kneepkens CM, Rosipal S, Mistrik M, Kappler M, Michaud L, Dóczy LC, Siu VM, Krantz M, Zoller H, Utermann G, Janecke AR. Heinz-Erian P, et al. Among authors: rosipal s. Am J Hum Genet. 2009 Feb;84(2):188-96. doi: 10.1016/j.ajhg.2009.01.004. Epub 2009 Jan 29. Am J Hum Genet. 2009. PMID: 19185281 Free PMC article.
Highly Elevated Plasma γ-Glutamyltransferase Elevations: A Trait Caused by γ-Glutamyltransferase 1 Transmembrane Mutations.
De Grandi A, Franzini M, Rosipal Š, Rosipal R, Debreova M, Corti A, Ruetzler-Dichtl E, Scholl-Bürgi S, Paolicchi A, Pompella A, Emdin M, Zampa G, Witt H, Zoller H, Tilg H, Mayatepek E, Herebian D, Pramstaller PP, Müller T, Janecke AR. De Grandi A, et al. Among authors: rosipal s. Hepatology. 2020 Mar;71(3):1124-1127. doi: 10.1002/hep.30944. Epub 2019 Oct 28. Hepatology. 2020. PMID: 31520399 Free PMC article. No abstract available.
[Extra-alveolar air in the neonatal period].
Rosipal S, Trebunová H. Rosipal S, et al. Cesk Pediatr. 1991 Feb;46(2):115-7. Cesk Pediatr. 1991. PMID: 1769080 Slovak. No abstract available.
17 results