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Neonatal intrahepatic cholestasis due to citrin deficiency
Disease definition
A mild subtype of citrin deficiency characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia.
ORPHA:247598
Classification level: DisorderDetailed information
Article for general public
Professionals
- Clinical practice guidelines
- Français (2021)
- Deutsch (2012)
- Guidance for genetic testing
- Français (2015, pdf)
- Clinical genetics review
- English (2017)
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
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