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Missense variants in the TRPM7 α-kinase domain are associated with recurrent pediatric acute liver failure.
Schlieben LD, Achleitner MT, Bourke B, Diesner M, Feichtinger RG, Fichtner A, Flechtenmacher C, Hadzic N, Hegarty R, Heilos A, Janecke A, Konstantopoulou V, Lenz D, Mayr JA, Müller T, Prokisch H, Vogel GF. Schlieben LD, et al. Among authors: muller t. Hepatol Commun. 2024 Nov 29;8(12):e0598. doi: 10.1097/HC9.0000000000000598. eCollection 2024 Dec 1. Hepatol Commun. 2024. PMID: 39621058 Free PMC article.
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
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: muller t. 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.
The influence of liver transplantation on the interplay between gut microbiome and bile acid homeostasis in children with biliary atresia.
Waldner B, Aldrian D, Zöggeler T, Oberacher H, Oberhuber R, Schneeberger S, Messner F, Schneider AM, Kohlmaier B, Lanzersdorfer R, Huber WD, Entenmann A, Müller T, Vogel GF. Waldner B, et al. Among authors: muller t. Hepatol Commun. 2023 May 15;7(6):e0151. doi: 10.1097/HC9.0000000000000151. eCollection 2023 Jun 1. Hepatol Commun. 2023. PMID: 37184522 Free PMC article.
Kinesin family member 12-related hepatopathy: A generally indolent disorder with elevated gamma-glutamyl-transferase activity.
Vogel GF, Podpeskar A, Rieder D, Salzer H, Garczarczyk-Asim D, Wang L, Abuduxikuer K, Wang JS, Scharrer A, Faqeih EA, Aseeri AT, Vodopiutz J, Heilos A, Pichler J, Huber WD, Müller T, Knisely AS, Janecke AR. Vogel GF, et al. Among authors: muller t. Clin Genet. 2024 Sep;106(3):224-233. doi: 10.1111/cge.14524. Epub 2024 Mar 29. Clin Genet. 2024. PMID: 38553872
Towards understanding microvillus inclusion disease.
Vogel GF, Hess MW, Pfaller K, Huber LA, Janecke AR, Müller T. Vogel GF, et al. Among authors: muller t. Mol Cell Pediatr. 2016 Dec;3(1):3. doi: 10.1186/s40348-016-0031-0. Epub 2016 Jan 29. Mol Cell Pediatr. 2016. PMID: 26830108 Free PMC article.
Three Novel EPCAM Variants Causing Tufting Enteropathy in Three Families.
Ayyıldız Civan H, Leitner C, Östreicher I, Schneider AM, Cremer M, Mayr JA, Rossi R, Müller T, Janecke AR. Ayyıldız Civan H, et al. Among authors: muller t. Children (Basel). 2021 Jun 14;8(6):503. doi: 10.3390/children8060503. Children (Basel). 2021. PMID: 34198699 Free PMC article.
4,499 results