Literature DB >> 34976370

Hepatic Manifestations of Mendelian Disorders of Cholesterol Biosynthesis and Cellular Metabolism.

Alanna Strong1,2, Rebecca Ganetzky1,3, Daniel J Rader1,4,3,5.   

Abstract

Content available: Audio Recording.
© 2021 by the American Association for the Study of Liver Diseases.

Entities:  

Year:  2021        PMID： 34976370      PMCID： PMC8688899          DOI： 10.1002/cld.1154

Source DB:  PubMed          Journal:  Clin Liver Dis (Hoboken)        ISSN： 2046-2484


  15 in total

Review 1.  Chylomicron metabolism.

Authors:  T G Redgrave
Journal:  Biochem Soc Trans       Date:  2004-02       Impact factor: 5.407

Review 2.  Defects of cholesterol biosynthesis.

Authors:  Hans R Waterham
Journal:  FEBS Lett       Date:  2006-07-20       Impact factor: 4.124

3.  Homozygous MTTP and APOB mutations may lead to hepatic steatosis and fibrosis despite metabolic differences in congenital hypocholesterolemia.

Authors:  Mathilde Di Filippo; Philippe Moulin; Pascal Roy; Marie Elisabeth Samson-Bouma; Sophie Collardeau-Frachon; Sabrina Chebel-Dumont; Noël Peretti; Jérôme Dumortier; Fabien Zoulim; Thierry Fontanges; Rossella Parini; Miriam Rigoldi; Francesca Furlan; Grazia Mancini; Dominique Bonnefont-Rousselot; Eric Bruckert; Jacques Schmitz; Jean Yves Scoazec; Sybil Charrière; Sylvie Villar-Fimbel; Frederic Gottrand; Béatrice Dubern; Diane Doummar; Francesca Joly; Marie Elisabeth Liard-Meillon; Alain Lachaux; Agnès Sassolas
Journal:  J Hepatol       Date:  2014-05-16       Impact factor: 25.083

Review 4.  Lysosomal acid lipase deficiency--an under-recognized cause of dyslipidaemia and liver dysfunction.

Authors:  Željko Reiner; Ornella Guardamagna; Devaki Nair; Handrean Soran; Kees Hovingh; Stefano Bertolini; Simon Jones; Marijana Ćorić; Sebastiano Calandra; John Hamilton; Terence Eagleton; Emilio Ros
Journal:  Atherosclerosis       Date:  2014-04-15       Impact factor: 5.162

Review 5.  Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management.

Authors:  Jooho Lee; Robert A Hegele
Journal:  J Inherit Metab Dis       Date:  2013-11-28       Impact factor: 4.982

Review 6.  Synthesis and function of hepatic very-low-density lipoprotein.

Authors:  G F Gibbons; D Wiggins; A-M Brown; A-M Hebbachi
Journal:  Biochem Soc Trans       Date:  2004-02       Impact factor: 5.407

7.  The role of reverse cholesterol transport in animals and humans and relationship to atherosclerosis.

Authors:  Daniel J Rader; Eric T Alexander; Ginny L Weibel; Jeffrey Billheimer; George H Rothblat
Journal:  J Lipid Res       Date:  2008-12-08       Impact factor: 5.922

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

9.  Evaluation of different suspicion indices in identifying patients with Niemann-Pick disease Type C in clinical practice: a post hoc analysis of a retrospective chart review.

Authors:  Mercedes Pineda; Katarína Juríčková; Parvaneh Karimzadeh; Miriam Kolniková; Věra Malinová; Juan Torres; Stefan A Kolb
Journal:  Orphanet J Rare Dis       Date:  2019-07-02       Impact factor: 4.123

10.  Persistent dyslipidemia in treatment of lysosomal acid lipase deficiency.

Authors:  Amanda Barone Pritchard; Alanna Strong; Can Ficicioglu
Journal:  Orphanet J Rare Dis       Date:  2020-02-24       Impact factor: 4.123
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