Intrahepatic Cholestasis due to Citrin Deficiency
We report a case of Neonatal Intrahepatic Cholestasis due to Citrin Deficiency in a 2-month-old female of Chinese descent who presented with jaundice and acholic stool. She had poor weight gain, axial hypotonia and large anterior fontanelle with no dysmorphia or hepatosplenomegaly. Laboratory findi...
| Main Authors: | , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Sociedade Portuguesa de Pediatria
2020-07-01
|
| Series: | Portuguese Journal of Pediatrics |
| Online Access: | https://pjp.spp.pt//article/view/18759 |