eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | homocystinuria due to cystathionine beta-synthase deficiency |
| Comorbidity | C0598608|hyperhomocysteinemia |
| Sentences | 3 |
| PubMedID- 20839901 | Although protease activated receptor-1 (par-1) and matrix metalloproteinase-9 (mmp-9) play significant role in vascular remodelling in hyperhomocysteinemia (hhcy due to cystathionine beta synthase deficiency, cbs-/+) and diabetes, mechanism remains nebulous. |
| PubMedID- 25516723 | Severe hyperhomocysteinemia due to cystathionine beta-synthase deficiency, and factor v leiden mutation in a patient with recurrent venous thrombosis. |
| PubMedID- 23263672 | Hepatic steatosis is common in patients with severe hyperhomocysteinemia due to deficiency of cystathionine beta-synthase [105,106]. |
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