eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | classic galactosemia |
| Comorbidity | C0268151|classic galactosemia |
| Sentences | 2 |
| PubMedID- 25681079 | We report here a first exception to that rule - a de novo galt variant in a patient with classic galactosemia. |
| PubMedID- 21246399 | classic galactosemia due to galactose-1-phosphate uridyltransferase (galt) deficiency is associated with apparent diet-independent complications including cognitive impairment, learning problems and speech defects. |
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