AKR1D1 and CYP7B1 mutations in patients with inborn errors of bile acid metabolism: Possibly underdiagnosed diseases
Background: Inborn errors of bile acid metabolism (IEBAM) cause rare but treatable genetic disorders that can present as neonatal cholestasis or neurological diseases. Without timely primary bile acid treatment, patients may develop liver failure early in life. This study aimed to analyze the types...
| Κύριοι συγγραφείς: | , , , , , , , , , , , , , |
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| Μορφή: | Άρθρο |
| Γλώσσα: | English |
| Έκδοση: |
Elsevier
2020-02-01
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| Σειρά: | Pediatrics and Neonatology |
| Διαθέσιμο Online: | http://www.sciencedirect.com/science/article/pii/S1875957219300956 |