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Page 1
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: wali sh. 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.
Differences in presentation and progression between severe FIC1 and BSEP deficiencies.
Pawlikowska L, Strautnieks S, Jankowska I, Czubkowski P, Emerick K, Antoniou A, Wanty C, Fischler B, Jacquemin E, Wali S, Blanchard S, Nielsen IM, Bourke B, McQuaid S, Lacaille F, Byrne JA, van Eerde AM, Kolho KL, Klomp L, Houwen R, Bacchetti P, Lobritto S, Hupertz V, McClean P, Mieli-Vergani G, Shneider B, Nemeth A, Sokal E, Freimer NB, Knisely AS, Rosenthal P, Whitington PF, Pawlowska J, Thompson RJ, Bull LN. Pawlikowska L, et al. J Hepatol. 2010 Jul;53(1):170-8. doi: 10.1016/j.jhep.2010.01.034. Epub 2010 Apr 13. J Hepatol. 2010. PMID: 20447715 Free PMC article.
Outcomes of surgical management of familial intrahepatic cholestasis 1 and bile salt export protein deficiencies.
Bull LN, Pawlikowska L, Strautnieks S, Jankowska I, Czubkowski P, Dodge JL, Emerick K, Wanty C, Wali S, Blanchard S, Lacaille F, Byrne JA, van Eerde AM, Kolho KL, Houwen R, Lobritto S, Hupertz V, McClean P, Mieli-Vergani G, Sokal E, Rosenthal P, Whitington PF, Pawlowska J, Thompson RJ. Bull LN, et al. Hepatol Commun. 2018 Mar 30;2(5):515-528. doi: 10.1002/hep4.1168. eCollection 2018 May. Hepatol Commun. 2018. PMID: 29761168 Free PMC article.
Deleterious Variants in ABCC12 are Detected in Idiopathic Chronic Cholestasis and Cause Intrahepatic Bile Duct Loss in Model Organisms.
Pham DH, Kudira R, Xu L, Valencia CA, Ellis JL, Shi T, Evason KJ, Osuji I, Matuschek N, Pfuhler L, Mullen M, Mohanty SK, Husami A, Bull LN, Zhang K, Wali S, Yin C, Miethke A. Pham DH, et al. Gastroenterology. 2021 Jul;161(1):287-300.e16. doi: 10.1053/j.gastro.2021.03.026. Epub 2021 Mar 23. Gastroenterology. 2021. PMID: 33771553 Free PMC article.
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome.
Gissen P, Johnson CA, Morgan NV, Stapelbroek JM, Forshew T, Cooper WN, McKiernan PJ, Klomp LW, Morris AA, Wraith JE, McClean P, Lynch SA, Thompson RJ, Lo B, Quarrell OW, Di Rocco M, Trembath RC, Mandel H, Wali S, Karet FE, Knisely AS, Houwen RH, Kelly DA, Maher ER. Gissen P, et al. Nat Genet. 2004 Apr;36(4):400-4. doi: 10.1038/ng1325. Epub 2004 Mar 28. Nat Genet. 2004. PMID: 15052268
Living-related liver transplantation.
Bassas AF, Wali SH, Chehab MS, Al-Husseini HF, Al-Shahed MS, Al-Shuraffa HA, Jawdat MT. Bassas AF, et al. Among authors: wali sh. Saudi Med J. 2001 Mar;22(3):276-9. Saudi Med J. 2001. PMID: 11307118
Management of Crigler-Najjar Syndrome type I.
Al-Shurafa HA, Bassas AF, Broering DC, Rogiers XG, Wali SH, Burdelski MM. Al-Shurafa HA, et al. Among authors: wali sh. Saudi Med J. 2001 Jun;22(6):486-9. Saudi Med J. 2001. PMID: 11426237 Review.
Pediatric living-related liver transplantation in Saudi Arabia.
Bassas AF, Chehab MS, Al-Shahed MS, Djurberg HG, Al-Shurafa HA, Jawdat MT, Al-Hussaini HF, Zuleika MA, Al-Hebby HA, Wali SH. Bassas AF, et al. Among authors: wali sh. Saudi Med J. 2002 Jun;23(6):640-4. Saudi Med J. 2002. PMID: 12070539
15 results