eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | dihydropyrimidine dehydrogenase deficiency |
| Comorbidity | C0025362|mental retardation |
| Sentences | 1 |
| PubMedID- 21420945 | Results: the substitution lys63glu is likely to affect the fad binding pocket within the dpd protein and contributes to a near-complete dpd deficiency in a patient with developmental retardation. |
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