Literature DB >> 18478331

Cholesterol ester storage disease (CESD) diagnosed in an asymptomatic adult.

Hemant Chatrath1, Steven Keilin, Bashar M Attar.   

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Year:  2008        PMID： 18478331     DOI： 10.1007/s10620-008-0310-2

Source DB:  PubMed          Journal:  Dig Dis Sci        ISSN： 0163-2116            Impact factor:   3.199


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  37 in total

1.  Liver transplantation for cholesteryl ester storage disease.

Authors:  G D Ferry; H H Whisennand; M J Finegold; E Alpert; A Glombicki
Journal:  J Pediatr Gastroenterol Nutr       Date:  1991-04       Impact factor: 2.839

2.  Severe chronic diarrhea and weight loss in cholesteryl ester storage disease: a case report.

Authors:  Uta Drebber; Matthias Andersen; Hans U Kasper; Peter Lohse; Manfred Stolte; Hans P Dienes
Journal:  World J Gastroenterol       Date:  2005-04-21       Impact factor: 5.742

3.  Asymptomatic cholesteryl ester storage disease in an adult controlled with simvastatin.

Authors:  S A Iverson; S R Cairns; C P Ward; A H Fensom
Journal:  Ann Clin Biochem       Date:  1997-07       Impact factor: 2.057

4.  Subclinical course of cholesteryl ester storage disease in an adult with hypercholesterolemia, accelerated atherosclerosis, and liver cancer.

Authors:  M Elleder; A Chlumská; J Hyánek; H Poupĕtová; J Ledvinová; S Maas; P Lohse
Journal:  J Hepatol       Date:  2000-03       Impact factor: 25.083

5.  Homozygosity for a splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester storage disease (CESD).

Authors:  S Muntoni; H Wiebusch; H Funke; E Ros; U Seedorf; G Assmann
Journal:  Hum Genet       Date:  1995-05       Impact factor: 4.132

6.  Hepatosplenomegalic lipidosis: what unless Gaucher? Adult cholesteryl ester storage disease (CESD) with anemia, mesenteric lipodystrophy, increased plasma chitotriosidase activity and a homozygous lysosomal acid lipase -1 exon 8 splice junction mutation.

Authors:  S vom Dahl; K Harzer; A Rolfs; B Albrecht; C Niederau; C Vogt; S van Weely; J Aerts; G Müller; D Häussinger
Journal:  J Hepatol       Date:  1999-10       Impact factor: 25.083

7.  New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease.

Authors:  F Pagani; R Pariyarath; R Garcia; C Stuani; A B Burlina; G Ruotolo; M Rabusin; F E Baralle
Journal:  J Lipid Res       Date:  1998-07       Impact factor: 5.922

8.  Molecular defects underlying Wolman disease appear to be more heterogeneous than those resulting in cholesteryl ester storage disease.

Authors:  P Lohse; S Maas; A C Sewell; D Seidel
Journal:  J Lipid Res       Date:  1999-02       Impact factor: 5.922

9.  Safety and efficacy of treatment of pediatric cholesteryl ester storage disease with lovastatin.

Authors:  C J Glueck; P Lichtenstein; T Tracy; J Speirs
Journal:  Pediatr Res       Date:  1992-11       Impact factor: 3.756

10.  Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity.

Authors:  C Aslanidis; S Ries; P Fehringer; C Büchler; H Klima; G Schmitz
Journal:  Genomics       Date:  1996-04-01       Impact factor: 5.736
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  8 in total

1.  Orthotopic liver transplantation in an adult with cholesterol ester storage disease.

Authors:  Graeme K Ambler; Matthew Hoare; Rebecca Brais; Ashley Shaw; Andrew Butler; Paul Flynn; Patrick Deegan; William J H Griffiths
Journal:  JIMD Rep       Date:  2012-07-24

2.  Sebelipase alfa over 52 weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency.

Authors:  Vassili Valayannopoulos; Vera Malinova; Tomas Honzík; Manisha Balwani; Catherine Breen; Patrick B Deegan; Gregory M Enns; Simon A Jones; John P Kane; Eveline O Stock; Radhika Tripuraneni; Stephen Eckert; Eugene Schneider; Gavin Hamilton; Michael S Middleton; Claude Sirlin; Bruce Kessler; Christopher Bourdon; Simeon A Boyadjiev; Reena Sharma; Chris Twelves; Chester B Whitley; Anthony G Quinn
Journal:  J Hepatol       Date:  2014-06-30       Impact factor: 25.083

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

Review 4.  Novel treatment options for lysosomal acid lipase deficiency: critical appraisal of sebelipase alfa.

Authors:  Kim Su; Emma Donaldson; Reena Sharma
Journal:  Appl Clin Genet       Date:  2016-10-17

Review 5.  Targeting Wolman Disease and Cholesteryl Ester Storage Disease: Disease Pathogenesis and Therapeutic Development.

Authors:  Francis Aguisanda; Natasha Thorne; Wei Zheng
Journal:  Curr Chem Genom Transl Med       Date:  2017-01-30

Review 6.  Reduced lysosomal acid lipase activity: A new marker of liver disease severity across the clinical continuum of non-alcoholic fatty liver disease?

Authors:  Francesco Baratta; Daniele Pastori; Domenico Ferro; Giovanna Carluccio; Giulia Tozzi; Francesco Angelico; Francesco Violi; Maria Del Ben
Journal:  World J Gastroenterol       Date:  2019-08-14       Impact factor: 5.742

Review 7.  Impact, Characterization, and Rescue of Pre-mRNA Splicing Mutations in Lysosomal Storage Disorders.

Authors:  Andrea Dardis; Emanuele Buratti
Journal:  Genes (Basel)       Date:  2018-02-06       Impact factor: 4.096

8.  Effect of a common missense variant in LIPA gene on fatty liver disease and lipid phenotype: New perspectives from a single-center observational study.

Authors:  Andrea Pasta; Paolo Borro; Anna Laura Cremonini; Elena Formisano; Giulia Tozzi; Stefano Cecchi; Raffaele Fresa; Sara Labanca; Afscin Djahandideh; Samir Giuseppe Sukkar; Antonino Picciotto; Livia Pisciotta
Journal:  Pharmacol Res Perspect       Date:  2021-10
  8 in total

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