Neonatal intrahepatic cholestasis caused by citrin deficiency (Q102750): Difference between revisions
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Revision as of 19:57, 16 August 2026
Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency characterised clinically by low birth weight, failure to thrive, growth retardation, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, haemolytic anaemia, variable but mostly mild liver dysfunction, and hypoglycaemia.
| Language | Label | Description | Also known as |
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| default for all languages | ID_987981591 |
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| English | Neonatal intrahepatic cholestasis caused by citrin deficiency |
Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency characterised clinically by low birth weight, failure to thrive, growth retardation, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, haemolytic anaemia, variable but mostly mild liver dysfunction, and hypoglycaemia. |
