Navigating cholestasis: identifying inborn errors of bile acid metabolism for precision diagnosis

• Main Authors: Hiroshi Nittono (Author), Mitsuyoshi Suzuki (Author), Hiromi Suzuki (Author), Satoru Sugimoto (Author), Jun Mori (Author), Rieko Sakamoto (Author), Yugo Takaki (Author), Hisamitsu Hayashi (Author), Hajime Takei (Author), Akihiko Kimura (Author)
• Format: Book
• Published: Frontiers Media S.A., 2024-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Inborn errors of bile acid metabolism (IEBAM) cause cholestasis during the neonatal period, and 8 types of IEBAM have been reported to date. IEBAM accounts for approximately 2% of cases of cholestasis of unknown cause. As only 10 patients have been identified in Japan, IEBAM presents diagnostic chal...