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Abetalipoproteinemia

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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Abetalipoproteinemia" returned 3 free, full-text review articles. First few results:
Vitamin E and oxidative stress in abetalipoproteinemia and familial hypobetalipoproteinemia.
Last Updated: Oct 05, 2015

Abetalipoproteinemia (ABL) and familial hypobetalipoproteinemia (FHBL) are genetic diseases characterized by low density lipoprotein deficiency. ABL presents early in life with the gastroenterological manifestations of fat malabsorption, steatorrhea, and failure to thrive, and later ...

A successful spontaneous pregnancy in abetalipoproteinemia: Amsterdam or the art of vitamin replacement?
Last Updated: Nov 13, 2018

Abetalipoproteinemia is a rare metabolic disorder that causes disturbed lipid absorption with consequent hypocholesterolaemia and liposoluble avitaminosis. The broad spectrum of presentations includes malabsorption, failure to thrive and acanthocytosis in children, while later in ...

Hypobetalipoproteinemia and abetalipoproteinemia.
Last Updated: Nov 13, 2018

Several mutations in the apoB, proprotein convertase subtilisin/kexin type 9 (PCSK9), and MTP genes result in low or absent levels of apoB and LDL-cholesterol in plasma, which cause familial hypobetalipoproteinemia and abetalipoproteinemia. Mutations in the ANGPTL3 gene cause familial ...

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3 Free Review Articles 12 Review Articles

Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Abetalipoproteinemia" returned 0 free, full-text editorial articles. First 0 results:
No publications were found for this category.
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Abetalipoproteinemia" returned 40 free, full-text research articles. First few results:
Efficacy of two vitamin E formulations in patients with abetalipoproteinemia and chylomicron retention disease.
Last Updated: Sep 09, 2019

Abetalipoproteinemia (ABL) and chylomicron retention disease (CMRD) are extremely rare recessive forms of hypobetalipoproteinemia characterized by intestinal lipid malabsorption and severe vitamin E deficiency. Vitamin E is often supplemented in the form of fat-soluble vitamin E acetate, ...

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40 Free Research Articles 119 Research Articles