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117
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liver disease
- ... an increased risk of developing non-alcoholic fatty liver disease (NAFLD). NAFLD is a buildup of excessive fat ... also been associated with the worsening of other liver diseases, such as a viral infection called hepatitis C. ...
- ... her liver. In very rare cases of maternal liver disease, the mother has one copy of an altered ... role of the mother's HADHA mutation in liver disease is unclear. ECHA_HUMAN GBP hydroxyacyl dehydrogenase, subunit ...
- ... been found to cause a severe form of liver disease called progressive familial intrahepatic cholestasis type 2 (PFIC2). PFIC2 is a disorder that causes progressive liver disease, which often leads to liver failure. To develop ...
- ... been found to cause a severe form of liver disease called progressive familial intrahepatic cholestasis type 3 (PFIC3). ... often appear in early childhood. PFIC3 causes progressive liver disease, which often leads to liver failure. Affected individuals ...
- ... a person's risk of developing lung disease, liver disease, and other abnormalities.Many SERPINA1 gene variants change ... Mahadeva R, Lomas DA. Alpha(1)-antitrypsin deficiency, liver disease and emphysema. Int J Biochem Cell Biol. 2003 ...
- ... of mental and movement abilities (psychomotor regression), and liver disease. The liver disease in Alpers-Huttenlocher syndrome can be brought on ... typically have mtDNA depletion in muscle, brain, or liver tissue. MtDNA depletion impairs ... More About This Health Condition Variants in the ...
- ... blood cells (polycythemia); and liver abnormalities, including irreversible liver disease (cirrhosis).Mutations in the SLC30A10 gene impair the ... parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease. Am J Hum Genet. 2012 Mar 9;90( ...
- ... been found to cause a severe form of liver disease called progressive familial intrahepatic cholestasis type 1 (PFIC1). ... in liver cells, damaging these cells and causing liver disease. Although the ATP8B1 protein is found throughout the ...
- ... inversely correlates with clinical severity in a genetic liver disease, hereditary tyrosinemia. Hum Pathol. 2003 Dec;34(12): ...
- ... more severe signs and symptoms such as irreversible liver disease (cirrhosis).Mutations in the PHKG2 gene reduce the ... Lutz R, Boneh A, Kishnani PS. Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the ...
