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Page 1
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. Among authors: muller t. J Pediatr Gastroenterol Nutr. 2011 Jul;53(1):48-54. doi: 10.1097/MPG.0b013e31820bc856. J Pediatr Gastroenterol Nutr. 2011. PMID: 21694535
Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications.
Janecke AR, Xu R, Steichen-Gersdorf E, Waldegger S, Entenmann A, Giner T, Krainer I, Huber LA, Hess MW, Frishberg Y, Barash H, Tzur S, Schreyer-Shafir N, Sukenik-Halevy R, Zehavi T, Raas-Rothschild A, Mao C, Müller T. Janecke AR, et al. Among authors: muller t. Hum Mutat. 2017 Apr;38(4):365-372. doi: 10.1002/humu.23192. Epub 2017 Mar 6. Hum Mutat. 2017. PMID: 28181337 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: muller t. Hum Mol Genet. 2019 Mar 1;28(5):828-841. doi: 10.1093/hmg/ddy394. Hum Mol Genet. 2019. PMID: 30445423
Severe Deoxyguanosine Kinase Deficiency in Austria: A 6-Patient Series.
Waich S, Roscher A, Brunner-Krainz M, Cortina G, Köstl G, Feichtinger RG, Entenmann A, Müller T, Knisely AS, Mayr JA, Janecke AR, Vodopiutz J. Waich S, et al. Among authors: muller t. J Pediatr Gastroenterol Nutr. 2019 Jan;68(1):e1-e6. doi: 10.1097/MPG.0000000000002149. J Pediatr Gastroenterol Nutr. 2019. PMID: 30589726
Stereotactic radiofrequency ablation of a variety of liver masses in children.
Hetzer B, Vogel GF, Entenmann A, Heil M, Schullian P, Putzer D, Meister B, Crazzolara R, Kropshofer G, Salvador C, Straub S, Karall D, Niederwanger C, Cortina G, Janecke A, Freund-Unsinn K, Maurer K, Schweigmann G, Oberhuber G, Renz O, Schneeberger S, Müller T, Bale R. Hetzer B, et al. Among authors: muller t. Int J Hyperthermia. 2020;37(1):1074-1081. doi: 10.1080/02656736.2020.1822549. Int J Hyperthermia. 2020. PMID: 32954876 Free article.
4,372 results