Literature DB >> 9686820

Persistence of the intestinal defect in abetalipoproteinaemia after liver transplantation.

C P Braegger1, D C Belli, G Mentha, B Steinmann.   

Abstract

A 16-year-old girl is described with abetalipoproteinaemia who underwent liver transplantation for hepatic cirrhosis. After this procedure her serum lipoprotein profile was corrected; however, fat malabsorption and steatorrhea persisted because the primary defect, a mutant microsomal triglyceride-transfer protein, remains expressed in the intestine.

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Year:  1998        PMID： 9686820     DOI： 10.1007/s004310050882

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  6 in total

Review 1.  Insights from human congenital disorders of intestinal lipid metabolism.

Authors:  Emile Levy
Journal:  J Lipid Res       Date:  2014-11-11       Impact factor: 5.922

Review 2.  Genetic determinants of hepatic steatosis in man.

Authors:  Amanda J Hooper; Leon A Adams; John R Burnett
Journal:  J Lipid Res       Date:  2011-01-18       Impact factor: 5.922

Review 3.  Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers.

Authors:  Noel Peretti; Agnès Sassolas; Claude C Roy; Colette Deslandres; Mathilde Charcosset; Justine Castagnetti; Laurence Pugnet-Chardon; Philippe Moulin; Sylvie Labarge; Lise Bouthillier; Alain Lachaux; Emile Levy
Journal:  Orphanet J Rare Dis       Date:  2010-09-29       Impact factor: 4.123

4.  Molecular characterization of Tunisian families with abetalipoproteinemia and identification of a novel mutation in MTTP gene.

Authors:  Mohamed Najah; Sarraj Mohamed Youssef; Hrira Mohamed Yahia; Slimani Afef; Jelassi Awatef; Hammami Saber; Najjar Mohamed Fadhel; Agnès Sassolas; Slimane Mohamed Naceur
Journal:  Diagn Pathol       Date:  2013-04-04       Impact factor: 2.644

Review 5.  Abetalipoproteinemia: two case reports and literature review.

Authors:  Rola Zamel; Razi Khan; Rebecca L Pollex; Robert A Hegele
Journal:  Orphanet J Rare Dis       Date:  2008-07-08       Impact factor: 4.123

6.  Non-alcoholic fatty liver disease: a narrative review of genetics.

Authors:  Christopher J Danford; Ze-Min Yao; Z Gordon Jiang
Journal:  J Biomed Res       Date:  2018-11-20
  6 in total

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