eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | abetalipoproteinemia |
| Symptom | C0042875|vitamin e deficiency |
| Sentences | 2 |
| PubMedID- 24753676 | Based on the described phenotype, the presence of acanthocytes and low serum cholesterol, tg, hdl, ldl, vldl, and apolipoprotein b levels, a diagnosis abetalipoproteinemia was considered with secondary vitamin e deficiency. |
| PubMedID- 22822447 | The necessity of vitamin e for human health is revealed in the detrimental phenotypes that occur in human diseases where vitamin e absorption or retention is severely limited, such as abetalipoproteinemia or ataxia with isolated vitamin e deficiency . |
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