eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | homocystinuria due to cystathionine beta-synthase deficiency |
| Symptom | C0598608|hyperhomocysteinemia |
| Sentences | 3 |
| PubMedID- 23263672 | Hepatic steatosis is common in patients with severe hyperhomocysteinemia due to deficiency of cystathionine beta-synthase . |
| PubMedID- 25516723 | Severe hyperhomocysteinemia due to cystathionine beta-synthase deficiency, and factor v leiden mutation in a patient with recurrent venous thrombosis. |
| PubMedID- 22319627 | It has been reported that hyperhomocysteinemia due to cbs deficiency promotes monocyte activation and proinflammatory alterations in transgenic mice . |
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