Literature DB >> 26503675

Dyslipidaemia: Lysosomal acid lipase deficiency-a cautious leap forward.

Carla E M Hollak1, G Kees Hovingh2.   

Abstract

Lysosomal acid lipase deficiency can lead to liver failure and early death. A recently published placebo-controlled trial shows that enzyme-replacement therapy improves plasma levels of lipids and aminotransferases, and reduces liver fat content. However, the effect on clinical end points and an appropriate indication for treatment remain to be established.

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Year:  2015        PMID： 26503675     DOI： 10.1038/nrendo.2015.182

Source DB:  PubMed          Journal:  Nat Rev Endocrinol        ISSN： 1759-5029            Impact factor:   43.330


  9 in total

1.  Lysosomal Acid Lipase Deficiency--A New Therapy for a Genetic Lipid Disease.

Authors:  Daniel J Rader
Journal:  N Engl J Med       Date:  2015-09-10       Impact factor: 91.245

Review 2.  Limitations of drug registries to evaluate orphan medicinal products for the treatment of lysosomal storage disorders.

Authors:  Carla E M Hollak; Johannes M F G Aerts; Ségolène Aymé; Jeremy Manuel
Journal:  Orphanet J Rare Dis       Date:  2011-04-16       Impact factor: 4.123

3.  Distinctive histopathological features that support a diagnosis of cholesterol ester storage disease in liver biopsy specimens.

Authors:  Helena Hůlková; Milan Elleder
Journal:  Histopathology       Date:  2012-06       Impact factor: 5.087

4.  Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia.

Authors:  Nathan O Stitziel; Sigrid W Fouchier; Barbara Sjouke; Gina M Peloso; Alessa M Moscoso; Paul L Auer; Anuj Goel; Bruna Gigante; Timothy A Barnes; Olle Melander; Marju Orho-Melander; Stefano Duga; Suthesh Sivapalaratnam; Majid Nikpay; Nicola Martinelli; Domenico Girelli; Rebecca D Jackson; Charles Kooperberg; Leslie A Lange; Diego Ardissino; Ruth McPherson; Martin Farrall; Hugh Watkins; Muredach P Reilly; Daniel J Rader; Ulf de Faire; Heribert Schunkert; Jeanette Erdmann; Nilesh J Samani; Lawrence Charnas; David Altshuler; Stacey Gabriel; John J P Kastelein; Joep C Defesche; Aart J Nederveen; Sekar Kathiresan; G Kees Hovingh
Journal:  Arterioscler Thromb Vasc Biol       Date:  2013-09-26       Impact factor: 8.311

Review 5.  Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease.

Authors:  Donna L Bernstein; Helena Hülkova; Martin G Bialer; Robert J Desnick
Journal:  J Hepatol       Date:  2013-02-26       Impact factor: 25.083

6.  Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients.

Authors:  Neal J Weinreb; Mario C Aggio; Hans C Andersson; Generoso Andria; Joel Charrow; Joe T R Clarke; Anders Erikson; Pilar Giraldo; Jack Goldblatt; Carla Hollak; Hiroyuki Ida; Paige Kaplan; Edwin H Kolodny; Pramod Mistry; Gregory M Pastores; Ricardo Pires; Ainu Prakash-Cheng; Ainu Prakesh-Cheng; Barry E Rosenbloom; C Ronald Scott; Elisa Sobreira; Anna Tylki-Szymańska; Ashok Vellodi; Stephan vom Dahl; Rebecca S Wappner; Ari Zimran
Journal:  Semin Hematol       Date:  2004-10       Impact factor: 3.851

Review 7.  Gaucher disease. Current issues in diagnosis and treatment. NIH Technology Assessment Panel on Gaucher Disease.

Authors: 
Journal:  JAMA       Date:  1996-02-21       Impact factor: 56.272

8.  A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency.

Authors:  Barbara K Burton; Manisha Balwani; François Feillet; Ivo Barić; T Andrew Burrow; Carmen Camarena Grande; Mahmut Coker; Alejandra Consuelo-Sánchez; Patrick Deegan; Maja Di Rocco; Gregory M Enns; Richard Erbe; Fatih Ezgu; Can Ficicioglu; Katryn N Furuya; John Kane; Christina Laukaitis; Eugen Mengel; Edward G Neilan; Scott Nightingale; Heidi Peters; Maurizio Scarpa; K Otfried Schwab; Vratislav Smolka; Vassili Valayannopoulos; Marnie Wood; Zachary Goodman; Yijun Yang; Stephen Eckert; Sandra Rojas-Caro; Anthony G Quinn
Journal:  N Engl J Med       Date:  2015-09-10       Impact factor: 91.245

Review 9.  Innovative treatments for lysosomal diseases.

Authors:  Timothy M Cox
Journal:  Best Pract Res Clin Endocrinol Metab       Date:  2015-01-24       Impact factor: 4.690
  9 in total
  1 in total

1.  Living-Donor Liver Transplantation for Late-Onset Lysosomal Acid Lipase Deficiency.

Authors:  Somashekara H Ramakrishna; Mohan B Kasala; Karnan Perumal; Selvakumar Malleeswaran; Rajanikanth V Patcha; Joy Varghese
Journal:  J Clin Exp Hepatol       Date:  2021-07-06
  1 in total

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