eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | krabbe disease |
| Comorbidity | C0023521|krabbe disease |
| Sentences | 2 |
| PubMedID- 22704718 | Array cgh improves detection of mutations in the galc gene associated with krabbe disease. |
| PubMedID- 23419961 | Methods: hplc-ms/ms methodology was used to determine the psychosine concentrations in dried blood spots (dbs) collected from the following cohorts: known krabbe patients, screened babies that were determined to have infantile krabbe disease, asymptomatic infants with low galc activity, and normal controls. |
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