Article
Assessment of ATP8B1 Deficiency in Pediatric Patients With Cholestasis Using Peripheral Blood Monocyte-Derived Macrophages.
EBioMedicine - 1 Jan 2018
Hayashi Hisamitsu, Naoi Sotaro, Togawa Takao, Hirose Yu, Kondou Hiroki, Hasegawa Yasuhiro, Abukawa Daiki, Sasaki Mika, Muroya Koji, Watanabe Satoshi, Nakano Satoshi, Minowa Kei, Inui Ayano, Fukuda Akinari, Kasahara Mureo, Nagasaka Hironori, Bessho Kazuhiko, Suzuki Mitsuyoshi, Kusuhara Hiroyuki
Abstract excerpt
Progressive familial intrahepatic cholestasis type 1 (PFIC1), a rare inherited recessive disease resulting from a genetic deficiency in ATP8B1, progresses to liver failure. Because of the difficulty of discriminating PFIC1 from other subtypes of PFIC based on its clinical and histological features and genome sequencing, an alternative method for diagnosing PFIC1 is desirable. Herein, we analyzed human peripheral...
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