Clinical utility gene card for: Abetalipoproteinaemia - Update 2014

被引:10
作者
Burnett, John R. [1 ,2 ]
Bell, Damon A. [1 ,2 ]
Hooper, Amanda J. [1 ,2 ,3 ]
Hegele, Robert A. [4 ]
机构
[1] Royal Perth Hosp, PathWest Lab Med, Dept Clin Biochem, Perth, WA 6847, Australia
[2] Univ Western Australia, Sch Med & Pharmacol, Perth, WA 6009, Australia
[3] Univ Western Australia, Sch Pathol & Lab Med, Perth, WA 6009, Australia
[4] Robarts Res Inst, London, ON N6A 5C1, Canada
基金
加拿大健康研究院;
关键词
TRANSFER-PROTEIN; VITAMIN-E; HYPOBETALIPOPROTEINEMIA; MUTATIONS; DEFECTS;
D O I
10.1038/ejhg.2014.224
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
[No abstract available]
引用
收藏
页码:e1 / e3
页数:3
相关论文
共 11 条
  • [1] The role of the microsomal triglygeride transfer protein in abetalipoproteinemia
    Berriot-Varoqueaux, N
    Aggerbeck, LP
    Samson-Bouma, ME
    Wetterau, JR
    [J]. ANNUAL REVIEW OF NUTRITION, 2000, 20 : 663 - 697
  • [2] Long-term assessment of combined vitamin A and E treatment for the prevention of retinal degeneration in abetalipoproteinaemia and hypobetalipoproteinaemia patients
    Chowers, I
    Banin, E
    Merin, S
    Cooper, M
    Granot, E
    [J]. EYE, 2001, 15 (4) : 525 - 530
  • [3] Homozygous MTTP and APOB mutations may lead to hepatic steatosis and fibrosis despite metabolic differences in congenital hypocholesterolemia
    Di Filippo, Mathilde
    Moulin, Philippe
    Roy, Pascal
    Samson-Bouma, Marie Elisabeth
    Collardeau-Frachon, Sophie
    Chebel-Dumont, Sabrina
    Peretti, Noel
    Dumortier, Jerome
    Zoulim, Fabien
    Fontanges, Thierry
    Parini, Rossella
    Rigoldi, Miriam
    Furlan, Francesca
    Mancini, Grazia
    Bonnefont-Rousselot, Dominique
    Bruckert, Eric
    Schmitz, Jacques
    Scoazec, Jean Yves
    Charriere, Sybil
    Villar-Fimbel, Sylvie
    Gottrand, Frederic
    Dubern, Beatrice
    Doummar, Diane
    Joly, Francesca
    Liard-Meillon, Marie Elisabeth
    Lachaux, Alain
    Sassolas, Agnes
    [J]. JOURNAL OF HEPATOLOGY, 2014, 61 (04) : 891 - 902
  • [4] Update on Primary Hypobetalipoproteinemia
    Hooper, Amanda J.
    Burnett, John R.
    [J]. CURRENT ATHEROSCLEROSIS REPORTS, 2014, 16 (07)
  • [5] Kane J.P., 2001, METABOLIC MOL BASES, V2, P2717
  • [6] Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management
    Lee, Jooho
    Hegele, Robert A.
    [J]. JOURNAL OF INHERITED METABOLIC DISEASE, 2014, 37 (03) : 333 - 339
  • [7] EFFECT OF LARGE ORAL DOSES OF VITAMIN-E ON THE NEUROLOGICAL SEQUELAE OF PATIENTS WITH ABETALIPOPROTEINEMIA
    MULLER, DPR
    LLOYD, JK
    [J]. ANNALS OF THE NEW YORK ACADEMY OF SCIENCES, 1982, 393 (SEP) : 133 - 144
  • [8] NARCISI TME, 1995, AM J HUM GENET, V57, P1298
  • [9] CLONING AND GENE DEFECTS IN MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN ASSOCIATED WITH ABETALIPOPROTEINEMIA
    SHARP, D
    BLINDERMAN, L
    COMBS, KA
    KIENZLE, B
    RICCI, B
    WAGERSMITH, K
    GIL, CM
    TURCK, CW
    BOUMA, ME
    RADER, DJ
    AGGERBECK, LP
    GREGG, RE
    GORDON, DA
    WETTERAU, JR
    [J]. NATURE, 1993, 365 (6441) : 65 - 69
  • [10] ABETALIPOPROTEINEMIA IS CAUSED BY DEFECTS OF THE GENE ENCODING THE 97 KDA SUBUNIT OF A MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN
    SHOULDERS, CC
    BRETT, DJ
    BAYLISS, JD
    NARCISI, TME
    JARMUZ, A
    GRANTHAM, TT
    LEONI, PRD
    BHATTACHARYA, S
    PEASE, RJ
    CULLEN, PM
    LEVI, S
    BYFIELD, PGH
    PURKISS, P
    SCOTT, J
    [J]. HUMAN MOLECULAR GENETICS, 1993, 2 (12) : 2109 - 2116