Bosma PJ - Search Results

1

Disease burden and management of Crigler-Najjar syndrome: Report of a world registry.

Aronson SJ, Junge N, Trabelsi M, Kelmemi W, Hubert A, Brigatti KW, Fox MD, de Knegt RJ, Escher JC, Ginocchio VM, Iorio R, Zhu Y, Özçay F, Rahim F, El-Shabrawi MHF, Shteyer E, Di Giorgio A, D'Antiga L, Mingozzi F, Brunetti-Pierri N, Strauss KA, Labrune P, Mrad R, Baumann U, Beuers U, Bosma PJ; CureCN Consortium. Aronson SJ, et al. Among authors: bosma pj. Liver Int. 2022 Jul;42(7):1593-1604. doi: 10.1111/liv.15239. Epub 2022 Mar 29. Liver Int. 2022. PMID: 35274801 No abstract available.

2

Sequence of exons and the flanking regions of human bilirubin-UDP-glucuronosyltransferase gene complex and identification of a genetic mutation in a patient with Crigler-Najjar syndrome, type I.

Bosma PJ, Chowdhury NR, Goldhoorn BG, Hofker MH, Oude Elferink RP, Jansen PL, Chowdhury JR. Bosma PJ, et al. Hepatology. 1992 May;15(5):941-7. doi: 10.1002/hep.1840150531. Hepatology. 1992. PMID: 1568736

3

Mechanisms of inherited deficiencies of multiple UDP-glucuronosyltransferase isoforms in two patients with Crigler-Najjar syndrome, type I.

Bosma PJ, Chowdhury JR, Huang TJ, Lahiri P, Elferink RP, Van Es HH, Lederstein M, Whitington PF, Jansen PL, Chowdhury NR. Bosma PJ, et al. FASEB J. 1992 Jul;6(10):2859-63. doi: 10.1096/fasebj.6.10.1634050. FASEB J. 1992. PMID: 1634050

4

Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase.

Seppen J, Bosma PJ, Goldhoorn BG, Bakker CT, Chowdhury JR, Chowdhury NR, Jansen PL, Oude Elferink RP. Seppen J, et al. Among authors: bosma pj. J Clin Invest. 1994 Dec;94(6):2385-91. doi: 10.1172/JCI117604. J Clin Invest. 1994. PMID: 7989595 Free PMC article.

5

Towards liver-directed gene therapy for Crigler-Najjar syndrome.

Miranda PS, Bosma PJ. Miranda PS, et al. Among authors: bosma pj. Curr Gene Ther. 2009 Apr;9(2):72-82. doi: 10.2174/156652309787909508. Curr Gene Ther. 2009. PMID: 19355865 Review.

6

Crigler-Najjar syndrome in The Netherlands: identification of four novel UGT1A1 alleles, genotype-phenotype correlation, and functional analysis of 10 missense mutants.

Sneitz N, Bakker CT, de Knegt RJ, Halley DJ, Finel M, Bosma PJ. Sneitz N, et al. Among authors: bosma pj. Hum Mutat. 2010 Jan;31(1):52-9. doi: 10.1002/humu.21133. Hum Mutat. 2010. PMID: 19830808

7

Ezetimibe: A biomarker for efficacy of liver directed UGT1A1 gene therapy for inherited hyperbilirubinemia.

Montenegro-Miranda PS, Sneitz N, de Waart DR, Ten Bloemendaal L, Duijst S, de Knegt RJ, Beuers U, Finel M, Bosma PJ. Montenegro-Miranda PS, et al. Among authors: bosma pj. Biochim Biophys Acta. 2012 Aug;1822(8):1223-9. doi: 10.1016/j.bbadis.2012.04.013. Epub 2012 Apr 21. Biochim Biophys Acta. 2012. PMID: 22546842 Free article.

8

Polyinosinic acid blocks adeno-associated virus macrophage endocytosis in vitro and enhances adeno-associated virus liver-directed gene therapy in vivo.

van Dijk R, Montenegro-Miranda PS, Riviere C, Schilderink R, ten Bloemendaal L, van Gorp J, Duijst S, de Waart DR, Beuers U, Haisma HJ, Bosma PJ. van Dijk R, et al. Among authors: bosma pj. Hum Gene Ther. 2013 Sep;24(9):807-13. doi: 10.1089/hum.2013.086. Hum Gene Ther. 2013. PMID: 24010701

9

Characterization and treatment of persistent hepatocellular secretory failure.

van Dijk R, Kremer AE, Smit W, van den Elzen B, van Gulik T, Gouma D, Lameris JS, Bikker H, Enemuo V, Stokkers PC, Feist M, Bosma P, Jansen PL, Beuers U. van Dijk R, et al. Liver Int. 2015 Apr;35(4):1478-88. doi: 10.1111/liv.12603. Epub 2014 Jul 4. Liver Int. 2015. PMID: 24905729

10

Gene replacement therapy for genetic hepatocellular jaundice.

van Dijk R, Beuers U, Bosma PJ. van Dijk R, et al. Among authors: bosma pj. Clin Rev Allergy Immunol. 2015 Jun;48(2-3):243-53. doi: 10.1007/s12016-014-8454-7. Clin Rev Allergy Immunol. 2015. PMID: 25315738 Review.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

96 results

Search Page

Filters