eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | hypercholesterolemia, familial |
| Symptom | C0302314|xanthomas |
| Sentences | 5 |
| PubMedID- 25499375 | Seven-year clinical follow-up of a chinese homozygous familial hypercholesterolemia child with premature xanthomas and coronary artery disease--a need for early diagnosis and aggressive treatment. |
| PubMedID- 21777527 | Results: out of total of 120 hypercholesterolemia cases, 42 patients were classical cases of hefh (heterozygous familial hypercholesterolemia) with xanthomas, xanthelasmas and ldl-c > 160 mg/dl. |
| PubMedID- 24252837 | Multiple tendon xanthomas in patient with heterozygous familial hypercholesterolaemia: sonographic and mri findings. |
| PubMedID- 24196283 | Diffuse giant tendon xanthomas in a patient with familial hypercholesterolaemia. |
| PubMedID- 20019024 | The risk of tendon xanthomas in familial hypercholesterolaemia is influenced by variation in genes of the reverse cholesterol transport pathway and the low-density lipoprotein oxidation pathway. |
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