Literature DB >> 16143868

An atypical case of abetalipoproteinaemia with severe fatty liver in the absence of steatorrhoea or acanthocytosis.

Osamu Sakamoto1, Daiki Abukawa, Junji Takeyama, Nobuhiro Arai, Makoto Nagano, Hiroaki Hattori, Tohru Egashira, Naohiko Sakai, Shizuya Yamashita, Kazuie Iinuma, Toshihiro Ohura.   

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Year:  2005        PMID： 16143868     DOI： 10.1007/s00431-005-1751-7

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


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  6 in total

1.  Malformation of the erythrocytes in a case of atypical retinitis pigmentosa.

Authors:  F A BASSEN; A L KORNZWEIG
Journal:  Blood       Date:  1950-04       Impact factor: 22.113

Review 2.  Microsomal triglyceride transfer protein: a multifunctional protein.

Authors:  Mohammed Mahmood Hussain; Jahangir Iqbal; Kamran Anwar; Paul Rava; Kezhi Dai
Journal:  Front Biosci       Date:  2003-05-01

3.  Novel mutations in the microsomal triglyceride transfer protein gene causing abetalipoproteinemia.

Authors:  K Ohashi; S Ishibashi; J Osuga; R Tozawa; K Harada; N Yahagi; F Shionoiri; Y Iizuka; Y Tamura; R Nagai; D R Illingworth; T Gotoda; N Yamada
Journal:  J Lipid Res       Date:  2000-08       Impact factor: 5.922

4.  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

5.  Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia.

Authors:  J R Wetterau; L P Aggerbeck; M E Bouma; C Eisenberg; A Munck; M Hermier; J Schmitz; G Gay; D J Rader; R E Gregg
Journal:  Science       Date:  1992-11-06       Impact factor: 47.728

6.  Ileal adenocarcinoma in a mild phenotype of abetalipoproteinemia.

Authors:  K Al-Shali; J Wang; F Rosen; R A Hegele
Journal:  Clin Genet       Date:  2003-02       Impact factor: 4.438
  6 in total
  4 in total

1.  Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia.

Authors:  Mathilde Di Filippo; Hervé Créhalet; Marie Elisabeth Samson-Bouma; Véronique Bonnet; Lawrence P Aggerbeck; Jean-Pierre Rabès; Frederic Gottrand; Gérald Luc; Dominique Bozon; Agnès Sassolas
Journal:  J Lipid Res       Date:  2012-01-11       Impact factor: 5.922

2.  Identification of two novel mutations and long-term follow-up in abetalipoproteinemia: a report of four cases.

Authors:  Laurence Chardon; Agnès Sassolas; Bernard Dingeon; Laurence Michel-Calemard; Michel Bovier-Lapierre; Philippe Moulin; Alain Lachaux
Journal:  Eur J Pediatr       Date:  2008-12-09       Impact factor: 3.183

Review 3.  Abetalipoproteinemia: two case reports and literature review.

Authors:  Rola Zamel; Razi Khan; Rebecca L Pollex; Robert A Hegele
Journal:  Orphanet J Rare Dis       Date:  2008-07-08       Impact factor: 4.123

Review 4.  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
  4 in total

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