Hisamitsu Hayashi
Tokyo, Japan
Last Updated: 09/26/2026
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Found 38 publications
Baat-Deficient Mice Recapitulate Elevated 7α-Hydroxy-3-Oxo-4-Cholestenoic Acid Observed in a Japanese Patient With BAAT Deficiency.
Journal: Journal of inherited metabolic disease
Published: January 19, 2026
Early diagnosis of Zellweger syndrome through a Nationwide Liver Disease Registry System (CIRCLe).
Journal: Pediatrics international : official journal of the Japan Pediatric Society
Published: March 29, 2025
Lipolysis-Stimulated Lipoprotein Receptor Gene Variants as a Cause of Progressive Familial Intrahepatic Cholestasis: A Case Report.
Journal: Hepatology research : the official journal of the Japan Society of Hepatology
Published: December 10, 2024
Efficacy and safety of switching therapy from chenodeoxycholic acid to cholic acid in Japanese patients with bile acid synthesis disorders.
Journal: Molecular genetics and metabolism reports
Published: May 18, 2024
Navigating cholestasis: identifying inborn errors of bile acid metabolism for precision diagnosis.
Journal: Frontiers in pediatrics
Published: February 14, 2024
Dried blood spot-based newborn screening for bile acid synthesis disorders, Zellweger spectrum disorder, and Niemann-Pick type C1 by detection of bile acid metabolites.
Journal: Molecular genetics and metabolism
Published: August 05, 2023
Clinicopathologic Features, Genetics, Treatment, and Long-Term Outcomes in Japanese Children and Young Adults with Benign Recurrent Intrahepatic Cholestasis: A Multicenter Study.
Journal: Journal of clinical medicine
Published: July 30, 2023
Rapid in vivo evaluation system for cholestasis-related genes in mice with humanized bile acid profiles.
Journal: Hepatology communications
Published: July 24, 2023
Intestinal Atp8b1 dysfunction causes hepatic choline deficiency and steatohepatitis.
Journal: Nature communications
Published: June 09, 2023
Clinical symptoms, biochemistry, and liver histology during the native liver period of progressive familial intrahepatic cholestasis type 2.
Journal: Orphanet journal of rare diseases
Published: May 22, 2023
Healthy Patients With AKR1D1 Mutation Not Requiring Primary Bile Acid Therapy: A Case Series.
Journal: JPGN reports
Published: May 14, 2023
Clinical and genetic features of congenital bile acid synthesis defect with a novel mutation in AKR1D1 gene sequencing: Case reports.
Journal: Medicine
Published: March 08, 2022
Last Updated: 09/26/2026