Article
Assessment of Adenosine Triphosphatase Phospholipid Transporting 8B1 (ATP8B1) Function in Patients With Cholestasis With ATP8B1 Deficiency by Using Peripheral Blood Monocyte-Derived Macrophages.
Hepatology communications - 1 Jan 2021
Mizutani Ayumu, Sabu Yusuke, Naoi Sotaro, Ito Shogo, Nakano Satoshi, Minowa Kei, Mizuochi Tatsuki, Ito Koichi, Abukawa Daiki, Kaji Shunsaku, Sasaki Mika, Muroya Koji, Azuma Yoshihiro, Watanabe Satoshi, Oya Yuki, Inomata Yukihiro, Fukuda Akinari, Kasahara Mureo, Inui Ayano, Takikawa Hajime, Kusuhara Hiroyuki, Bessho Kazuhiko, Suzuki Mitsuyoshi, Togawa Takao, Hayashi Hisamitsu
Abstract excerpt
Adenosine triphosphatase phospholipid transporting 8B1 (ATP8B1) deficiency, an ultrarare autosomal recessive liver disease, includes severe and mild clinical forms, referred to as progressive familial intrahepatic cholestasis type 1 (PFIC1) and benign recurrent intrahepatic cholestasis type 1 (BRIC1), respectively. There is currently no practical method for determining PFIC1 or BRIC1 at an early disease course...
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