Article
Successful heterozygous living donor liver transplantation for an oxysterol 7α-hydroxylase deficiency in a Japanese patient.
Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society - 1 Sept 2011
Mizuochi Tatsuki, Kimura Akihiko, Suzuki Mitsuyoshi, Ueki Isao, Takei Hajime, Nittono Hiroshi, Kakiuchi Toshihiko, Shigeta Takanobu, Sakamoto Seisuke, Fukuda Akinari, Nakazawa Atsuko, Shimizu Toshiaki, Kurosawa Takao, Kasahara Mureo
Abstract excerpt
Only 2 patients with an oxysterol 7α-hydroxylase deficiency caused by mutations of the cytochrome P450 7B1 (CYP7B1) gene have been reported; for both, the outcome was fatal. We describe the clinical and laboratory features, the hepatic and renal histological findings, and the results of bile acid and CYP7B1 gene analyses for a third patient. This Japanese infant presented with progressive cholestatic liver...
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