Bull LN - Search Results

1

Progressive familial intrahepatic cholestasis - farnesoid X receptor deficiency due to NR1H4 mutation: A case report.

Czubkowski P, Thompson RJ, Jankowska I, Knisely AS, Finegold M, Parsons P, Cielecka-Kuszyk J, Strautnieks S, Pawłowska J, Bull LN. Czubkowski P, et al. Among authors: bull ln. World J Clin Cases. 2021 May 26;9(15):3631-3636. doi: 10.12998/wjcc.v9.i15.3631. World J Clin Cases. 2021. PMID: 34046462 Free PMC article.

2

Progressive Familial Intrahepatic Cholestasis.

Bull LN, Thompson RJ. Bull LN, et al. Clin Liver Dis. 2018 Nov;22(4):657-669. doi: 10.1016/j.cld.2018.06.003. Epub 2018 Aug 3. Clin Liver Dis. 2018. PMID: 30266155 Review.

3

Cholestasis Due to USP53 Deficiency.

Bull LN, Ellmers R, Foskett P, Strautnieks S, Sambrotta M, Czubkowski P, Jankowska I, Wagner B, Deheragoda M, Thompson RJ. Bull LN, et al. J Pediatr Gastroenterol Nutr. 2021 May 1;72(5):667-673. doi: 10.1097/MPG.0000000000002926. J Pediatr Gastroenterol Nutr. 2021. PMID: 33075013 Free PMC article.

4

Progressive familial intrahepatic cholestasis, type 1, is associated with decreased farnesoid X receptor activity.

Chen F, Ananthanarayanan M, Emre S, Neimark E, Bull LN, Knisely AS, Strautnieks SS, Thompson RJ, Magid MS, Gordon R, Balasubramanian N, Suchy FJ, Shneider BL. Chen F, et al. Among authors: bull ln. Gastroenterology. 2004 Mar;126(3):756-64. doi: 10.1053/j.gastro.2003.12.013. Gastroenterology. 2004. PMID: 14988830

5

VPS33B mutation with ichthyosis, cholestasis, and renal dysfunction but without arthrogryposis: incomplete ARC syndrome phenotype.

Bull LN, Mahmoodi V, Baker AJ, Jones R, Strautnieks SS, Thompson RJ, Knisely AS. Bull LN, et al. J Pediatr. 2006 Feb;148(2):269-71. doi: 10.1016/j.jpeds.2005.10.005. J Pediatr. 2006. PMID: 16492441

6

Diagnosis in bile acid-CoA: amino acid N-acyltransferase deficiency.

Hadžić N, Bull LN, Clayton PT, Knisely AS. Hadžić N, et al. Among authors: bull ln. World J Gastroenterol. 2012 Jul 7;18(25):3322-6. doi: 10.3748/wjg.v18.i25.3322. World J Gastroenterol. 2012. PMID: 22783059 Free PMC article.

7

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.

8

Identification of a locus for progressive familial intrahepatic cholestasis PFIC2 on chromosome 2q24.

Strautnieks SS, Kagalwalla AF, Tanner MS, Knisely AS, Bull L, Freimer N, Kocoshis SA, Gardiner RM, Thompson RJ. Strautnieks SS, et al. Am J Hum Genet. 1997 Sep;61(3):630-3. doi: 10.1086/515501. Am J Hum Genet. 1997. PMID: 9326328 Free PMC article.

9

Exocrine pancreatic function in children with progressive familial intrahepatic cholestasis type 2.

Walkowiak J, Jankowska I, Pawlowska J, Strautnieks S, Bull L, Thompson R, Herzig KH, Socha J. Walkowiak J, et al. J Pediatr Gastroenterol Nutr. 2006 Apr;42(4):416-8. doi: 10.1097/01.mpg.0000218154.26792.6a. J Pediatr Gastroenterol Nutr. 2006. PMID: 16641580

10

Normal pancreatic secretion in children with progressive familial intrahepatic cholestasis type 1.

Walkowiak J, Jankowska I, Pawlowska J, Bull L, Herzig KH, Socha J. Walkowiak J, et al. Scand J Gastroenterol. 2006 Dec;41(12):1480-3. doi: 10.1080/00365520600842344. Scand J Gastroenterol. 2006. PMID: 17101580

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