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Page 1
Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency.
Felzen A, van Wessel DBE, Gonzales E, Thompson RJ, Jankowska I, Shneider BL, Sokal E, Grammatikopoulos T, Kadaristiana A, Jacquemin E, Spraul A, Lipiński P, Czubkowski P, Rock N, Shagrani M, Broering D, Nicastro E, Kelly D, Nebbia G, Arnell H, Fischler B, Hulscher JBF, Serranti D, Arikan C, Polat E, Debray D, Lacaille F, Goncalves C, Hierro L, Muñoz Bartolo G, Mozer-Glassberg Y, Azaz A, Brecelj J, Dezsőfi A, Calvo PL, Grabhorn E, Hartleif S, van der Woerd WJ, Kamath BM, Wang JS, Li L, Durmaz Ö, Kerkar N, Jørgensen MH, Fischer R, Jimenez-Rivera C, Alam S, Cananzi M, Laverdure N, Ferreira CT, Guerrero FO, Wang H, Sency V, Kim KM, Chen HL, de Carvalho E, Fabre A, Bernabeu JQ, Zellos A, Alonso EM, Sokol RJ, Suchy FJ, Loomes KM, McKiernan PJ, Rosenthal P, Turmelle Y, Horslen S, Schwarz K, Bezerra JA, Wang K, Hansen BE, Verkade HJ; NAtural course and Prognosis of PFIC and Effect of biliary Diversion (NAPPED) Consortium. Felzen A, et al. Among authors: turmelle y. JHEP Rep. 2022 Nov 16;5(2):100626. doi: 10.1016/j.jhepr.2022.100626. eCollection 2023 Feb. JHEP Rep. 2022. PMID: 36687469 Free PMC article.
Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency.
van Wessel DBE, Thompson RJ, Gonzales E, Jankowska I, Shneider BL, Sokal E, Grammatikopoulos T, Kadaristiana A, Jacquemin E, Spraul A, Lipiński P, Czubkowski P, Rock N, Shagrani M, Broering D, Algoufi T, Mazhar N, Nicastro E, Kelly D, Nebbia G, Arnell H, Fischler B, Hulscher JBF, Serranti D, Arikan C, Debray D, Lacaille F, Goncalves C, Hierro L, Muñoz Bartolo G, Mozer-Glassberg Y, Azaz A, Brecelj J, Dezsőfi A, Luigi Calvo P, Krebs-Schmitt D, Hartleif S, van der Woerd WL, Wang JS, Li LT, Durmaz Ö, Kerkar N, Hørby Jørgensen M, Fischer R, Jimenez-Rivera C, Alam S, Cananzi M, Laverdure N, Targa Ferreira C, Ordonez F, Wang H, Sency V, Mo Kim K, Chen HL, Carvalho E, Fabre A, Quintero Bernabeu J, Alonso EM, Sokol RJ, Suchy FJ, Loomes KM, McKiernan PJ, Rosenthal P, Turmelle Y, Rao GS, Horslen S, Kamath BM, Rogalidou M, Karnsakul WW, Hansen B, Verkade HJ; Natural Course and Prognosis of PFIC and Effect of Biliary Diversion Consortium. van Wessel DBE, et al. Among authors: turmelle y. Hepatology. 2021 Aug;74(2):892-906. doi: 10.1002/hep.31787. Epub 2021 Jul 13. Hepatology. 2021. PMID: 33666275 Free PMC article.
Bone Density in Children With Chronic Liver Disease Correlates With Growth and Cholestasis.
Loomes KM, Spino C, Goodrich NP, Hangartner TN, Marker AE, Heubi JE, Kamath BM, Shneider BL, Rosenthal P, Hertel PM, Karpen SJ, Molleston JP, Murray KF, Schwarz KB, Squires RH, Teckman J, Turmelle YP, Alonso EM, Sherker AH, Magee JC, Sokol RJ; Childhood Liver Disease Research Network. Loomes KM, et al. Hepatology. 2019 Jan;69(1):245-257. doi: 10.1002/hep.30196. Epub 2018 Dec 27. Hepatology. 2019. PMID: 30063078 Free PMC article.
Mutation Analysis and Disease Features at Presentation in a Multi-Center Cohort of Children With Monogenic Cholestasis.
Hertel PM, Bull LN, Thompson RJ, Goodrich NP, Ye W, Magee JC, Squires RH, Bass LM, Heubi JE, Kim GE, Ranganathan S, Schwarz KB, Bozic MA, Horslen SP, Clifton MS, Turmelle YP, Suchy FJ, Superina RA, Wang KS, Loomes KM, Kamath BM, Sokol RJ, Shneider BL; Childhood Liver Disease Research Network (ChiLDReN). Hertel PM, et al. Among authors: turmelle yp. J Pediatr Gastroenterol Nutr. 2021 Aug 1;73(2):169-177. doi: 10.1097/MPG.0000000000003153. J Pediatr Gastroenterol Nutr. 2021. PMID: 34016879 Free PMC article.
Total serum bilirubin predicts fat-soluble vitamin deficiency better than serum bile acids in infants with biliary atresia.
Venkat VL, Shneider BL, Magee JC, Turmelle Y, Arnon R, Bezerra JA, Hertel PM, Karpen SJ, Kerkar N, Loomes KM, Molleston J, Murray KF, Ng VL, Raghunathan T, Rosenthal P, Schwartz K, Sherker AH, Sokol RJ, Teckman J, Wang K, Whitington PF, Heubi JE; Childhood Liver Disease Research and Education Network. Venkat VL, et al. Among authors: turmelle y. J Pediatr Gastroenterol Nutr. 2014 Dec;59(6):702-7. doi: 10.1097/MPG.0000000000000547. J Pediatr Gastroenterol Nutr. 2014. PMID: 25419594 Free PMC article. Clinical Trial.
Initial assessment of the infant with neonatal cholestasis-Is this biliary atresia?
Shneider BL, Moore J, Kerkar N, Magee JC, Ye W, Karpen SJ, Kamath BM, Molleston JP, Bezerra JA, Murray KF, Loomes KM, Whitington PF, Rosenthal P, Squires RH, Guthery SL, Arnon R, Schwarz KB, Turmelle YP, Sherker AH, Sokol RJ; Childhood Liver Disease Research Network. Shneider BL, et al. PLoS One. 2017 May 11;12(5):e0176275. doi: 10.1371/journal.pone.0176275. eCollection 2017. PLoS One. 2017. PMID: 28493866 Free PMC article. Clinical Trial.
Impact of Steroid Therapy on Early Growth in Infants with Biliary Atresia: The Multicenter Steroids in Biliary Atresia Randomized Trial.
Alonso EM, Ye W, Hawthorne K, Venkat V, Loomes KM, Mack CL, Hertel PM, Karpen SJ, Kerkar N, Molleston JP, Murray KF, Romero R, Rosenthal P, Schwarz KB, Shneider BL, Suchy FJ, Turmelle YP, Wang KS, Sherker AH, Sokol RJ, Bezerra JA, Magee JC; ChiLDReN Network. Alonso EM, et al. J Pediatr. 2018 Nov;202:179-185.e4. doi: 10.1016/j.jpeds.2018.07.002. Epub 2018 Sep 21. J Pediatr. 2018. PMID: 30244988 Free PMC article. Clinical Trial.
Presentation and Outcomes of Infants With Idiopathic Cholestasis: A Multicenter Prospective Study.
Hertel PM, Hawthorne K, Kim S, Finegold MJ, Shneider BL, Squires JE, Gupta NA, Bull LN, Murray KF, Kerkar N, Ng VL, Molleston JP, Bezerra JA, Loomes KM, Taylor SA, Schwarz KB, Turmelle YP, Rosenthal P, Magee JC, Sokol RJ; Childhood Liver Disease Research Network (ChiLDReN). Hertel PM, et al. Among authors: turmelle yp. J Pediatr Gastroenterol Nutr. 2021 Oct 1;73(4):478-484. doi: 10.1097/MPG.0000000000003248. J Pediatr Gastroenterol Nutr. 2021. PMID: 34310436 Free PMC article.
Analysis of surgical interruption of the enterohepatic circulation as a treatment for pediatric cholestasis.
Wang KS, Tiao G, Bass LM, Hertel PM, Mogul D, Kerkar N, Clifton M, Azen C, Bull L, Rosenthal P, Stewart D, Superina R, Arnon R, Bozic M, Brandt ML, Dillon PA, Fecteau A, Iyer K, Kamath B, Karpen S, Karrer F, Loomes KM, Mack C, Mattei P, Miethke A, Soltys K, Turmelle YP, West K, Zagory J, Goodhue C, Shneider BL; Childhood Liver Disease Research Network (ChiLDReN). Wang KS, et al. Hepatology. 2017 May;65(5):1645-1654. doi: 10.1002/hep.29019. Epub 2017 Mar 22. Hepatology. 2017. PMID: 28027587 Free PMC article.
53 results