Bile Acid Synthetic Defects and Liver Disease: A Comprehensive Review
作者： Kevin E. Bove , James E. Heubi , William F. Balistreri , Kenneth D.R. Setchell
DOI: 10.1007/S10024-002-1201-8
关键词: Endocrinology 、 Liver disease 、 Metabolism 、 Bile acid 、 Giant cell 、 Cholestasis 、 Interlobular bile ducts 、 Fibrosis 、 Internal medicine 、 Peroxisome 、 Biology 、 Pathology and Forensic Medicine 、 Pediatrics, Perinatology, and Child Health 、 General Medicine
摘要: Bile acid synthetic defects (BASD), uncommon genetic disorders that are responsible for approximately 2% of persistent cholestasis in infants, are reviewed with emphasis on morphology of associated liver disease. The associated liver diseases may be life threatening, and are treatable, usually by replacement of deficient primary bile acids. Specific diagnosis is made by analysis of body fluids (bile, blood, and urine) using fast atom bombardment-mass spectroscopy (FAB-MS) and gas chromatography-mass spectroscopy …
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