Literature DB >> 25335492

Clinical utility gene card for: Abetalipoproteinaemia--Update 2014.

John R Burnett1, Damon A Bell1, Amanda J Hooper2, Robert A Hegele3.   

Abstract

Mesh：

Substances：

Year:  2014        PMID： 25335492      PMCID： PMC4795071          DOI： 10.1038/ejhg.2014.224

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


× No keyword cloud information.
  10 in total

Review 1.  The role of the microsomal triglygeride transfer protein in abetalipoproteinemia.

Authors:  N Berriot-Varoqueaux; L P Aggerbeck; M Samson-Bouma; J R Wetterau
Journal:  Annu Rev Nutr       Date:  2000       Impact factor: 11.848

Review 2.  Hypobetalipoproteinemia and abetalipoproteinemia.

Authors:  Francine K Welty
Journal:  Curr Opin Lipidol       Date:  2014-06       Impact factor: 4.776

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

4.  Effect of large oral doses of vitamin E on the neurological sequelae of patients with abetalipoproteinemia.

Authors:  D P Muller; J K Lloyd
Journal:  Ann N Y Acad Sci       Date:  1982       Impact factor: 5.691

Review 5.  Update on primary hypobetalipoproteinemia.

Authors:  Amanda J Hooper; John R Burnett
Journal:  Curr Atheroscler Rep       Date:  2014-07       Impact factor: 5.113

6.  Long-term assessment of combined vitamin A and E treatment for the prevention of retinal degeneration in abetalipoproteinaemia and hypobetalipoproteinaemia patients.

Authors:  I Chowers; E Banin; S Merin; M Cooper; E Granot
Journal:  Eye (Lond)       Date:  2001-08       Impact factor: 3.775

Review 7.  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

8.  Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemia.

Authors:  D Sharp; L Blinderman; K A Combs; B Kienzle; B Ricci; K Wager-Smith; C M Gil; C W Turck; M E Bouma; D J Rader
Journal:  Nature       Date:  1993-09-02       Impact factor: 49.962

9.  Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia.

Authors:  T M Narcisi; C C Shoulders; S A Chester; J Read; D J Brett; G B Harrison; T T Grantham; M F Fox; S Povey; T W de Bruin
Journal:  Am J Hum Genet       Date:  1995-12       Impact factor: 11.025

10.  Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein.

Authors:  C C Shoulders; D J Brett; J D Bayliss; T M Narcisi; A Jarmuz; T T Grantham; P R Leoni; S Bhattacharya; R J Pease; P M Cullen
Journal:  Hum Mol Genet       Date:  1993-12       Impact factor: 6.150
  10 in total
  2 in total

1.  Extreme Contrast of Postprandial Remnant-Like Particles Formed in Abetalipoproteinemia and Homozygous Familial Hypobetalipoproteinemia.

Authors:  Masa-Aki Kawashiri; Hayato Tada; Marowa Hashimoto; Matsuo Taniyama; Takamitsu Nakano; Katsuyuki Nakajima; Takeshi Inoue; Mika Mori; Chiaki Nakanishi; Tetsuo Konno; Kenshi Hayashi; Atsushi Nohara; Akihiro Inazu; Junji Koizumi; Hirotaka Ishihara; Junji Kobayashi; Tsutomu Hirano; Hiroshi Mabuchi; Masakazu Yamagishi
Journal:  JIMD Rep       Date:  2015-03-13

Review 2.  Current Diagnosis and Management of Abetalipoproteinemia.

Authors:  Manabu Takahashi; Hiroaki Okazaki; Ken Ohashi; Masatsune Ogura; Shun Ishibashi; Sachiko Okazaki; Satoshi Hirayama; Mika Hori; Kota Matsuki; Shinji Yokoyama; Mariko Harada-Shiba
Journal:  J Atheroscler Thromb       Date:  2021-05-16       Impact factor: 4.928
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.