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Page 1
Inflammatory Bowel Disease in Patients with Congenital Chloride Diarrhoea.
Norsa L, Berni Canani R, Duclaux-Loras R, Bequet E, Köglmeier J, Russell RK, Uhlig HH, Travis S, Hollis J, Koletzko S, Grimaldi G, Castaldo G, Rodrigues A, Deflandre J, Dembinski L, Shah N, Heinz-Erian P, Janecke A, Leskinen S, Wedenoja S, Koskela R, Lachaux A, Kolho KL, Ruemmele FM. Norsa L, et al. Among authors: heinz erian p. J Crohns Colitis. 2021 Oct 7;15(10):1679-1685. doi: 10.1093/ecco-jcc/jjab056. J Crohns Colitis. 2021. PMID: 33770165
Significance of molecular testing for congenital chloride diarrhea.
Lechner S, Ruemmele FM, Zankl A, Lausch E, Huber WD, Mihatsch W, Phillips AD, Lewindon P, Querfeld U, Heinz-Erian P, Müller T, Janecke AR. Lechner S, et al. J Pediatr Gastroenterol Nutr. 2011 Jul;53(1):48-54. doi: 10.1097/MPG.0b013e31820bc856. J Pediatr Gastroenterol Nutr. 2011. PMID: 21694535
Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea.
Janecke AR, Heinz-Erian P, Yin J, Petersen BS, Franke A, Lechner S, Fuchs I, Melancon S, Uhlig HH, Travis S, Marinier E, Perisic V, Ristic N, Gerner P, Booth IW, Wedenoja S, Baumgartner N, Vodopiutz J, Frechette-Duval MC, De Lafollie J, Persad R, Warner N, Tse CM, Sud K, Zachos NC, Sarker R, Zhu X, Muise AM, Zimmer KP, Witt H, Zoller H, Donowitz M, Müller T. Janecke AR, et al. Hum Mol Genet. 2015 Dec 1;24(23):6614-23. doi: 10.1093/hmg/ddv367. Epub 2015 Sep 10. Hum Mol Genet. 2015. PMID: 26358773 Free PMC article.
Further delineation of SLC9A3-related congenital sodium diarrhea.
Bogdanic E, Müller T, Heinz-Erian P, Garczarczyk-Asim D, Janecke AR, Rückel A. Bogdanic E, et al. Among authors: heinz erian p. Mol Genet Genomic Med. 2022 Aug;10(8):e2000. doi: 10.1002/mgg3.2000. Epub 2022 Jun 30. Mol Genet Genomic Med. 2022. PMID: 35775128 Free PMC article.
SPINT2 (HAI-2) missense variants identified in congenital sodium diarrhea/tufting enteropathy affect the ability of HAI-2 to inhibit prostasin but not matriptase.
Holt-Danborg L, Vodopiutz J, Nonboe AW, De Laffolie J, Skovbjerg S, Wolters VM, Müller T, Hetzer B, Querfurt A, Zimmer KP, Jensen JK, Entenmann A, Heinz-Erian P, Vogel LK, Janecke AR. Holt-Danborg L, et al. Among authors: heinz erian p. Hum Mol Genet. 2019 Mar 1;28(5):828-841. doi: 10.1093/hmg/ddy394. Hum Mol Genet. 2019. PMID: 30445423
84 results