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Hepatic agenesis
- Congenital Heart Defects/Genetics ... Congenital Heart Defects ... Bile Duct Diseases/Genetics ... Bile Duct Diseases ... Genetic and Rare Diseases Information Center ... From ...
- ... into the network of bile ducts. In congenital hepatic fibrosis, the development ... tracts.The abnormalities of the portal veins and bile ducts disrupt ...
- Wilson Disease: Frequently Asked Questions (Wilson Disease Association)Wilson Disease/Start Here ... Wilson Disease ... Wilson Disease Association
- ... abnormal buildup of fats in the liver called hepatic stenosis and can have an enlarged ... Chylomicron retention disease is ...
- ... at risk for serious complications such, as liver abnormalities and ... to as the hepatic or hypoketotic hypoglycemic form because of these signs. ...
- ... Wevers RA, Chong WK, Mills PB. Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations ... M, Fowler D, Bitner-Glindzicz M, Clayton PT. Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia--a new metabolic ...
- ... porphyrias can also be split into erythropoietic and hepatic types, depending on where damaging compounds called porphyrins ... splenomegaly). The other types of porphyrias are considered hepatic porphyrias. In these disorders, porphyrins and porphyrin precursors ...
- ... of Joubert syndrome is a combination of brain abnormalities that together are known as the molar tooth ... sign got its name because the characteristic brain abnormalities resemble the cross-section of a molar tooth ...
- ... B3 LFB3 TCF-2 TCF2 transcription factor 2, hepatic VHNF1 Tests of HNF1B PubMed HNF1 HOMEOBOX B; ...
- ... Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis Alpers disease Alpers progressive infantile poliodystrophy Alpers ... depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases. Am J Hum Genet. 1991 ...