A tale of 2 cousins: An atypical and a typical case of abetalipoproteinemia
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- 作者：Martine Paquette ; MSca ; Robert Dufour ; MD ; MSca ; b ; Robert A. Hegele ; MDc ; Alexis Baass ; MD ; MSca ; d ; alexis.baass@ircm.qc.ca" class="auth_mail" title="E-mail the corresponding author
- 关键词：Abetalipoproteinemia ; Apo B ; MTTP ; Low-density lipoprotein ; Vitamin A ; Vitamin E
- 刊名：Journal of Clinical Lipidology
- 出版年：2016
- 出版时间：July-August 2016
- 年：2016
- 卷：10
- 期：4
- 页码：1030-1034
- 全文大小：407 K
文摘
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Abetalipoproteinemia is caused by a deficiency in microsomal triglyceride transfer protein.
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Abetalipoproteinemia is associated with low LDL-C and significant neurological, hematological and gastro-intestinal symptoms.
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We describe an abetalipoproteinemia patient with an atypical presentation of the disease.