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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.
Muto Y, Suzuki M, Takei H, Saito N, Mori J, Sugimoto S, Imagawa K, Nambu R, Oguri S, Itonaga T, Ihara K, Hayashi H, Murayama K, Kakiyama G, Nittono H, Shimizu T. Muto Y, et al. Among authors: hayashi h. Mol Genet Metab. 2023 Sep-Oct;140(1-2):107703. doi: 10.1016/j.ymgme.2023.107703. Epub 2023 Sep 28. Mol Genet Metab. 2023. PMID: 37802748
Effect of food on the pharmacokinetics and therapeutic efficacy of 4-phenylbutyrate in progressive familial intrahepatic cholestasis.
Nakano S, Osaka S, Sabu Y, Minowa K, Hirai S, Kondou H, Kimura T, Azuma Y, Watanabe S, Inui A, Bessho K, Nakamura H, Kusano H, Nakazawa A, Tanikawa K, Kage M, Shimizu T, Kusuhara H, Zen Y, Suzuki M, Hayashi H. Nakano S, et al. Among authors: hayashi h. Sci Rep. 2019 Nov 19;9(1):17075. doi: 10.1038/s41598-019-53628-x. Sci Rep. 2019. PMID: 31745229 Free PMC article.
A randomized trial to examine the impact of food on pharmacokinetics of 4-phenylbutyrate and change in amino acid availability after a single oral administration of sodium 4-phenylbutyrarte in healthy volunteers.
Osaka S, Nakano S, Mizuno T, Hiraoka Y, Minowa K, Hirai S, Mizutani A, Sabu Y, Miura Y, Shimizu T, Kusuhara H, Suzuki M, Hayashi H. Osaka S, et al. Among authors: hayashi h. Mol Genet Metab. 2021 Apr;132(4):220-226. doi: 10.1016/j.ymgme.2021.02.002. Epub 2021 Feb 23. Mol Genet Metab. 2021. PMID: 33648834 Clinical Trial.
Clinical and genetic features of congenital bile acid synthesis defect with a novel mutation in AKR1D1 gene sequencing: Case reports.
Pham AN, Thi KB, Thi MN, Ngo DN, Naritaka N, Nittono H, Hayashi H, Dao TT, Nguyen KT, Nguyen HN, Giang H, Tang HS, Nguyen TT, Truong DK, Tran MD. Pham AN, et al. Among authors: hayashi h. Medicine (Baltimore). 2022 Jun 24;101(25):e29476. doi: 10.1097/MD.0000000000029476. Medicine (Baltimore). 2022. PMID: 35758383 Free PMC article.
Clinicopathologic Features, Genetics, Treatment, and Long-Term Outcomes in Japanese Children and Young Adults with Benign Recurrent Intrahepatic Cholestasis: A Multicenter Study.
Kato K, Umetsu S, Togawa T, Ito K, Kawabata T, Arinaga-Hino T, Tsumura N, Yasuda R, Mihara Y, Kusano H, Ito S, Imagawa K, Hayashi H, Inui A, Yamashita Y, Mizuochi T. Kato K, et al. Among authors: hayashi h. J Clin Med. 2023 Sep 15;12(18):5979. doi: 10.3390/jcm12185979. J Clin Med. 2023. PMID: 37762919 Free PMC article.
Clinical symptoms, biochemistry, and liver histology during the native liver period of progressive familial intrahepatic cholestasis type 2.
Kondou H, Nakano S, Mizuno T, Bessho K, Hasegawa Y, Nakazawa A, Tanikawa K, Azuma Y, Okamoto T, Inui A, Imagawa K, Kasahara M, Zen Y, Suzuki M, Hayashi H. Kondou H, et al. Among authors: hayashi h. Orphanet J Rare Dis. 2024 Feb 10;19(1):57. doi: 10.1186/s13023-024-03080-6. Orphanet J Rare Dis. 2024. PMID: 38341604 Free PMC article.
6,417 results