Literature DB >> 1919942

Fatal liver failure in two children with Niemann-Pick disease type B.

P Labrune1, P Bedossa, P Huguet, F Roset, M T Vanier, M Odievre.   

Abstract

We report on two young patients with Niemann-Pick disease type B presenting with severe hepatic disease. Both children developed cirrhosis and died of intrahepatic block and mechanical hemolysis. Autopsy findings revealed complete obstruction of the sinusoids by lipid-laden Kupffer's cells. These two cases illustrate a new hepatic lesion of Niemann-Pick disease.

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Year:  1991        PMID： 1919942     DOI： 10.1097/00005176-199107000-00020

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


  8 in total

1.  Cathepsin B overexpression due to acid sphingomyelinase ablation promotes liver fibrosis in Niemann-Pick disease.

Authors:  Anna Moles; Núria Tarrats; José C Fernández-Checa; Montserrat Marí
Journal:  J Biol Chem       Date:  2011-11-18       Impact factor: 5.157

2.  Liver and skin histopathology in adults with acid sphingomyelinase deficiency (Niemann-Pick disease type B).

Authors:  Beth L Thurberg; Melissa P Wasserstein; Thomas Schiano; Fanny O'Brien; Susan Richards; Gerald F Cox; Margaret M McGovern
Journal:  Am J Surg Pathol       Date:  2012-08       Impact factor: 6.394

3.  Cirrhosis and liver failure: expanding phenotype of Acid sphingomyelinase-deficient niemann-pick disease in adulthood.

Authors:  Olivier Lidove; Frédéric Sedel; Frédéric Charlotte; Roseline Froissart; Marie T Vanier
Journal:  JIMD Rep       Date:  2014-04-10

4.  Sphingosylphosphorylcholine in Niemann-Pick disease brain: accumulation in type A but not in type B.

Authors:  C Rodriguez-Lafrasse; M T Vanier
Journal:  Neurochem Res       Date:  1999-02       Impact factor: 3.996

5.  Progressive liver failure in a patient with adult Niemann-Pick disease associated with generalized AL amyloidosis.

Authors:  H Zhou; R P Linke; H E Schaefer; W Möbius; U Pfeifer
Journal:  Virchows Arch       Date:  1995       Impact factor: 4.064

Review 6.  Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency.

Authors:  Margaret M McGovern; Carlo Dionisi-Vici; Roberto Giugliani; Paul Hwu; Olivier Lidove; Zoltan Lukacs; Karl Eugen Mengel; Pramod K Mistry; Edward H Schuchman; Melissa P Wasserstein
Journal:  Genet Med       Date:  2017-04-13       Impact factor: 8.822

7.  Case Report of Gastrointestinal Bleeding in an Adult with Chronic Visceral Acid Sphingomyelinase Deficiency.

Authors:  David Cassiman; Louis Libbrecht; Wouter Meersseman; Alexander Wilmer
Journal:  Case Rep Gastrointest Med       Date:  2019-04-04

8.  One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency.

Authors:  George A Diaz; Simon A Jones; Maurizio Scarpa; Karl Eugen Mengel; Roberto Giugliani; Nathalie Guffon; Isabela Batsu; Patricia A Fraser; Jing Li; Qi Zhang; Catherine Ortemann-Renon
Journal:  Genet Med       Date:  2021-04-19       Impact factor: 8.864
  8 in total

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