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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: entenmann a. 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: entenmann a. Int J Hyperthermia. 2020;37(1):1074-1081. doi: 10.1080/02656736.2020.1822549. Int J Hyperthermia. 2020. PMID: 32954876 Free 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: entenmann a. Hum Mol Genet. 2019 Mar 1;28(5):828-841. doi: 10.1093/hmg/ddy394. Hum Mol Genet. 2019. PMID: 30445423
Influence of early biliary complications on survival rates after pediatric liver transplantation-A positive outlook.
Berchtold V, Messner F, Weissenbacher A, Oberhuber R, Entenmann A, Aldrian D, Vogel G, Margreiter C, Ulmer H, Krapf J, Cardini B, Schlitt HJ, Margreiter R, Öfner D, Müller T, Schneeberger S. Berchtold V, et al. Among authors: entenmann a. Pediatr Transplant. 2021 Nov;25(7):e14075. doi: 10.1111/petr.14075. Epub 2021 Jun 29. Pediatr Transplant. 2021. PMID: 34185384
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: entenmann a. 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.
Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy.
Kopajtich R, Murayama K, Janecke AR, Haack TB, Breuer M, Knisely AS, Harting I, Ohashi T, Okazaki Y, Watanabe D, Tokuzawa Y, Kotzaeridou U, Kölker S, Sauer S, Carl M, Straub S, Entenmann A, Gizewski E, Feichtinger RG, Mayr JA, Lackner K, Strom TM, Meitinger T, Müller T, Ohtake A, Hoffmann GF, Prokisch H, Staufner C. Kopajtich R, et al. Among authors: entenmann a. Am J Hum Genet. 2016 Aug 4;99(2):414-22. doi: 10.1016/j.ajhg.2016.05.027. Epub 2016 Jul 14. Am J Hum Genet. 2016. PMID: 27426735 Free PMC article.
47 results