Literature DB >> 16385265

Heterozygous bile salt export pump deficiency: a possible genetic predisposition to transient neonatal cholestasis.

Bogdan Hermeziu1, Damien Sanlaville, Muriel Girard, Claude Léonard, Stanislas Lyonnet, Emmanuel Jacquemin.   

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Year:  2006        PMID： 16385265     DOI： 10.1097/01.mpg.0000184429.34001.68

Source DB:  PubMed          Journal:  J Pediatr Gastroenterol Nutr        ISSN： 0277-2116            Impact factor:   2.839


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  9 in total

1.  Clinical utility gene card for: progressive familial intrahepatic cholestasis type 2.

Authors:  Emmanuel Gonzales; Anne Spraul; Emmanuel Jacquemin
Journal:  Eur J Hum Genet       Date:  2013-08-28       Impact factor: 4.246

2.  Significance of low or normal serum gamma glutamyl transferase level in infants with idiopathic neonatal hepatitis.

Authors:  Jian She Wang; Nancy Tan; Anil Dhawan
Journal:  Eur J Pediatr       Date:  2006-06-13       Impact factor: 3.183

3.  Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis.

Authors:  Marion Almes; Anne Spraul; Mathias Ruiz; Muriel Girard; Bertrand Roquelaure; Nolwenn Laborde; Fréderic Gottrand; Anne Turquet; Thierry Lamireau; Alain Dabadie; Marjorie Bonneton; Alice Thebaut; Babara Rohmer; Florence Lacaille; Pierre Broué; Alexandre Fabre; Karine Mention-Mulliez; Jérôme Bouligand; Emmanuel Jacquemin; Emmanuel Gonzales
Journal:  Diagnostics (Basel)       Date:  2022-05-07

Review 4.  Biosynthesis and trafficking of the bile salt export pump, BSEP: therapeutic implications of BSEP mutations.

Authors:  Carol J Soroka; James L Boyer
Journal:  Mol Aspects Med       Date:  2013-05-15

5.  Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy.

Authors:  Robert Kopajtich; Kei Murayama; Andreas R Janecke; Tobias B Haack; Maximilian Breuer; A S Knisely; Inga Harting; Toya Ohashi; Yasushi Okazaki; Daisaku Watanabe; Yoshimi Tokuzawa; Urania Kotzaeridou; Stefan Kölker; Sven Sauer; Matthias Carl; Simon Straub; Andreas Entenmann; Elke Gizewski; René G Feichtinger; Johannes A Mayr; Karoline Lackner; Tim M Strom; Thomas Meitinger; Thomas Müller; Akira Ohtake; Georg F Hoffmann; Holger Prokisch; Christian Staufner
Journal:  Am J Hum Genet       Date:  2016-07-14       Impact factor: 11.025

Review 6.  Progressive familial intrahepatic cholestasis.

Authors:  Anne Davit-Spraul; Emmanuel Gonzales; Christiane Baussan; Emmanuel Jacquemin
Journal:  Orphanet J Rare Dis       Date:  2009-01-08       Impact factor: 4.123

7.  Histological demonstration of BSEP/ABCB11 inhibition in transient neonatal cholestasis: a case report.

Authors:  Anna Baghdasaryan; Lisa Ofner-Ziegenfuß; Carolin Lackner; Peter Fickert; Bernhard Resch; Nicholas Mark Morris; Andrea Deutschmann
Journal:  BMC Pediatr       Date:  2020-07-09       Impact factor: 2.125

8.  Changes in plasma bile acid profiles after partial internal biliary diversion in PFIC2 patients.

Authors:  Teng Liu; Ren-Xue Wang; Jun Han; Yi-Ling Qiu; Christoph H Borchers; Victor Ling; Jian-She Wang
Journal:  Ann Transl Med       Date:  2020-03

9.  Presentation and Outcomes of Infants With Idiopathic Cholestasis: A Multicenter Prospective Study.

Authors:  Paula M Hertel; Kieran Hawthorne; Sehee Kim; Milton J Finegold; Benjamin L Shneider; James E Squires; Nitika A Gupta; Laura N Bull; Karen F Murray; Nanda Kerkar; Vicky L Ng; Jean P Molleston; Jorge A Bezerra; Kathleen M Loomes; Sarah A Taylor; Kathleen B Schwarz; Yumirle P Turmelle; Philip Rosenthal; John C Magee; Ronald J Sokol
Journal:  J Pediatr Gastroenterol Nutr       Date:  2021-10-01       Impact factor: 3.288
  9 in total

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