Literature DB >> 22669981

Progressive familial intrahepatic cholestasis type 3: overlapping presentation with Wilson disease.

Ramya Ramraj1, Milton J Finegold, Saul J Karpen.   

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Year:  2012        PMID： 22669981      PMCID： PMC3678905          DOI： 10.1177/0009922812451076

Source DB:  PubMed          Journal:  Clin Pediatr (Phila)        ISSN： 0009-9228            Impact factor:   1.168


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  6 in total

1.  The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood.

Authors:  E Jacquemin; J M De Vree; D Cresteil; E M Sokal; E Sturm; M Dumont; G L Scheffer; M Paul; M Burdelski; P J Bosma; O Bernard; M Hadchouel; R P Elferink
Journal:  Gastroenterology       Date:  2001-05       Impact factor: 22.682

Review 2.  The spectrum of liver diseases related to ABCB4 gene mutations: pathophysiology and clinical aspects.

Authors:  Anne Davit-Spraul; Emmanuel Gonzales; Christiane Baussan; Emmanuel Jacquemin
Journal:  Semin Liver Dis       Date:  2010-04-26       Impact factor: 6.115

3.  Defect of multidrug-resistance 3 gene expression in a subtype of progressive familial intrahepatic cholestasis.

Authors:  J F Deleuze; E Jacquemin; C Dubuisson; D Cresteil; M Dumont; S Erlinger; O Bernard; M Hadchouel
Journal:  Hepatology       Date:  1996-04       Impact factor: 17.425

4.  The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene.

Authors:  P C Bull; G R Thomas; J M Rommens; J R Forbes; D W Cox
Journal:  Nat Genet       Date:  1993-12       Impact factor: 38.330

5.  The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene.

Authors:  R E Tanzi; K Petrukhin; I Chernov; J L Pellequer; W Wasco; B Ross; D M Romano; E Parano; L Pavone; L M Brzustowicz
Journal:  Nat Genet       Date:  1993-12       Impact factor: 38.330

Review 6.  Low phospholipid associated cholelithiasis: association with mutation in the MDR3/ABCB4 gene.

Authors:  Olivier Rosmorduc; Raoul Poupon
Journal:  Orphanet J Rare Dis       Date:  2007-06-11       Impact factor: 4.123
  6 in total
  8 in total

Review 1.  Update on the Diagnosis and Management of Wilson Disease.

Authors:  Eve A Roberts
Journal:  Curr Gastroenterol Rep       Date:  2018-11-05

2.  Elevated copper impairs hepatic nuclear receptor function in Wilson's disease.

Authors:  Clavia Ruth Wooton-Kee; Ajay K Jain; Martin Wagner; Michael A Grusak; Milton J Finegold; Svetlana Lutsenko; David D Moore
Journal:  J Clin Invest       Date:  2015-08-04       Impact factor: 14.808

Review 3.  Genetic diseases that predispose to early liver cirrhosis.

Authors:  Manuela Scorza; Ausilia Elce; Federica Zarrilli; Renato Liguori; Felice Amato; Giuseppe Castaldo
Journal:  Int J Hepatol       Date:  2014-07-14

4.  Prospective evaluation of the diagnostic accuracy of hepatic copper content, as determined using the entire core of a liver biopsy sample.

Authors:  Xu Yang; Xiao-peng Tang; Yong-hong Zhang; Kai-zhong Luo; Yong-fang Jiang; Hong-yu Luo; Jian-hua Lei; Wen-long Wang; Ming-ming Li; Han-chun Chen; Shi-lin Deng; Li-ying Lai; Jun Liang; Min Zhang; Yi Tian; Yun Xu
Journal:  Hepatology       Date:  2015-08-27       Impact factor: 17.425

5.  Presentation of Progressive Familial Intrahepatic Cholestasis Type 3 Mimicking Wilson Disease: Molecular Genetic Diagnosis and Response to Treatment.

Authors:  Salih Boga; Dhanpat Jain; Michael L Schilsky
Journal:  Pediatr Gastroenterol Hepatol Nutr       Date:  2015-09-25

Review 6.  Are the new genetic tools for diagnosis of Wilson disease helpful in clinical practice?

Authors:  Carmen Espinós; Peter Ferenci
Journal:  JHEP Rep       Date:  2020-04-18

7.  Case report: progressive familial intrahepatic cholestasis type 3 with compound heterozygous ABCB4 variants diagnosed 15 years after liver transplantation.

Authors:  Mariam Goubran; Ayodeji Aderibigbe; Emmanuel Jacquemin; Catherine Guettier; Safwat Girgis; Vincent Bain; Andrew L Mason
Journal:  BMC Med Genet       Date:  2020-11-30       Impact factor: 2.103

Review 8.  New Insights in Genetic Cholestasis: From Molecular Mechanisms to Clinical Implications.

Authors:  Eva Sticova; Milan Jirsa; Joanna Pawłowska
Journal:  Can J Gastroenterol Hepatol       Date:  2018-07-26
  8 in total

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