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Genetic defects in bile acid conjugation cause fat-soluble vitamin deficiency.
Setchell KD, Heubi JE, Shah S, Lavine JE, Suskind D, Al-Edreesi M, Potter C, Russell DW, O'Connell NC, Wolfe B, Jha P, Zhang W, Bove KE, Knisely AS, Hofmann AF, Rosenthal P, Bull LN. Setchell KD, et al. Among authors: bull ln. Gastroenterology. 2013 May;144(5):945-955.e6; quiz e14-5. doi: 10.1053/j.gastro.2013.02.004. Epub 2013 Feb 13. Gastroenterology. 2013. PMID: 23415802 Free PMC article.
Longitudinal Outcomes in Young Patients with Alpha-1-Antitrypsin Deficiency with Native Liver Reveal that Neonatal Cholestasis is a Poor Predictor of Future Portal Hypertension.
Teckman J, Rosenthal P, Hawthorne K, Spino C, Bass LM, Murray KF, Kerkar N, Magee JC, Karpen S, Heubi JE, Molleston JP, Squires RH, Kamath BM, Guthery SL, Loomes KM, Sherker AH, Sokol RJ; ChiLDReN (Childhood Liver Disease Research Network). Teckman J, et al. J Pediatr. 2020 Dec;227:81-86.e4. doi: 10.1016/j.jpeds.2020.07.031. Epub 2020 Jul 11. J Pediatr. 2020. PMID: 32663593 Free PMC article.
Medical status of 219 children with biliary atresia surviving long-term with their native livers: results from a North American multicenter consortium.
Ng VL, Haber BH, Magee JC, Miethke A, Murray KF, Michail S, Karpen SJ, Kerkar N, Molleston JP, Romero R, Rosenthal P, Schwarz KB, Shneider BL, Turmelle YP, Alonso EM, Sherker AH, Sokol RJ; Childhood Liver Disease Research and Education Network (CHiLDREN). Ng VL, et al. J Pediatr. 2014 Sep;165(3):539-546.e2. doi: 10.1016/j.jpeds.2014.05.038. Epub 2014 Jul 9. J Pediatr. 2014. PMID: 25015575 Free PMC article.
Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families.
Strautnieks SS, Byrne JA, Pawlikowska L, Cebecauerová D, Rayner A, Dutton L, Meier Y, Antoniou A, Stieger B, Arnell H, Ozçay F, Al-Hussaini HF, Bassas AF, Verkade HJ, Fischler B, Németh A, Kotalová R, Shneider BL, Cielecka-Kuszyk J, McClean P, Whitington PF, Sokal E, Jirsa M, Wali SH, Jankowska I, Pawłowska J, Mieli-Vergani G, Knisely AS, Bull LN, Thompson RJ. Strautnieks SS, et al. Among authors: bull ln. Gastroenterology. 2008 Apr;134(4):1203-14. doi: 10.1053/j.gastro.2008.01.038. Epub 2008 Jan 18. Gastroenterology. 2008. PMID: 18395098 Free article.
Genetic and morphological findings in progressive familial intrahepatic cholestasis (Byler disease [PFIC-1] and Byler syndrome): evidence for heterogeneity.
Bull LN, Carlton VE, Stricker NL, Baharloo S, DeYoung JA, Freimer NB, Magid MS, Kahn E, Markowitz J, DiCarlo FJ, McLoughlin L, Boyle JT, Dahms BB, Faught PR, Fitzgerald JF, Piccoli DA, Witzleben CL, O'Connell NC, Setchell KD, Agostini RM Jr, Kocoshis SA, Reyes J, Knisely AS. Bull LN, et al. Hepatology. 1997 Jul;26(1):155-64. doi: 10.1002/hep.510260121. Hepatology. 1997. PMID: 9214465
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