eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | homocystinuria |
| Comorbidity | C0042373|vascular disease |
| Sentences | 2 |
| PubMedID- 21311765 | In assessing whether homocysteine causes ischaemic heart disease, the effect of lowering serum homocysteine in reducing cardiovascular disease risk in patients with homocystinuria is relevant. |
| PubMedID- 21221810 | (doi:10.1007/s10545-010-9146-y) points out a changing clinical spectrum of cystathionine synthase deficiency as patients with a mainly vascular disease pathology are discovered partly as a result of the recent focus on mild hyperhomocysteinaemia as a risk factor. |
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