eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | gaucher disease |
| Comorbidity | C0008370|cholestasis |
| Sentences | 2 |
| PubMedID- 23430923 | Neonatal cholestasis as initial manifestation of type 2 gaucher disease: a continuum in the spectrum of early onset gaucher disease. |
| PubMedID- 24915861 | Methods: individuals randomly referred to our outpatient clinics in the past two years for hepatosplenomegaly or isolated splenomegaly, who have been excluded as acid sphingomyelinase deficient npd or gaucher disease, and individuals with newborn cholestasis, psychomotor regression/retardation, were screened for plasma 7-ketocholesterol level. |
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