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3β‐hydroxy‐Δ5‐C27‐steroid dehydrogenase/isomerase deficiency in a patient who underwent oral bile acid therapy for 10 years and delivered two healthy infants |
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| Authors: | Hiroshi Nittono Hajime Takei Atsushi Unno Toshiaki Shimizu Masakazu Kobayashi Michio Koike Tsuyoshi Murai Takao Kurosawa Masahiko Thoma |
| Affiliation: | 1. Junshin Clinic Bile Acid Institute,;2. Department of Pediatrics, Juntendo University School of Medicine, Tokyo,;3. Kobayashi Children's Clinic,;4. Department of Pediatrics, Wakayama Medical University, Wakayama and;5. Faculty of Pharmaceutical Sciences, Health Sciences University of Hokkaido, Hokkaido, Japan |
| Abstract: | |
| Keywords: | 3β ‐hydroxy‐Δ 5‐C27‐steroid dehydrogenase/isomerase deficiency delivery gas chromatography‐mass spectrometry inborn error of bile acid metabolism oral bile acid therapy |