Clinical heterogeneity of neonatal intrahepatic cholestasis caused by citrin deficiency: case reports from 16 patients. [electronic resource]
Producer: 20050318Description: 213-9 p. digitalISSN:- 1096-7192
- Amino Acids -- blood
- Anemia, Hemolytic -- complications
- Bile Acids and Salts -- blood
- Biliary Atresia -- complications
- Blood Coagulation Factors
- Calcium-Binding Proteins -- deficiency
- Cholestasis, Intrahepatic -- complications
- Citrullinemia -- complications
- DNA Mutational Analysis
- DNA Primers
- Female
- Food, Formulated
- Galactose -- blood
- Hepatitis -- complications
- Humans
- Hypoglycemia -- complications
- Hypoproteinemia -- complications
- Infant
- Infant, Newborn
- Liver -- pathology
- Male
- Membrane Transport Proteins -- genetics
- Mitochondrial Membrane Transport Proteins
- Mitochondrial Proteins -- genetics
- Organic Anion Transporters -- deficiency
- Tyrosinemias -- complications
- Vitamins -- therapeutic use
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Publication Type: Case Reports; Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
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