HIGHLIGHTS
- who: HE et al. from the International, United States University La Paz Research have published the research work: Case report: Osteo-oto-hepato-enteric syndrome caused by UNC45A de ciency, in the Journal: (JOURNAL)
- what: The authors report a male infant from China presented with neonatal cholestasis and intractable diarrhea caused by novel compound heterozygous variants of UNC45A.
SUMMARY
The liver biochemical profile revealed elevated levels of alanine aminotransferase (ALT 391 U/L, reference range: 5-40 U/L), aspartate aminotransferase (AST 565 U/L, reference range: 8-40 U/ L . . .
If you want to have access to all the content you need to log in!
Thanks :)
If you don't have an account, you can create one here.