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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: takei 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
Oral bile Acid treatment in two Japanese patients with Zellweger syndrome.
Maeda K, Kimura A, Yamato Y, Nittono H, Takei H, Sato T, Mitsubuchi H, Murai T, Kurosawa T. Maeda K, et al. Among authors: takei h. J Pediatr Gastroenterol Nutr. 2002 Aug;35(2):227-30. doi: 10.1097/00005176-200208000-00025. J Pediatr Gastroenterol Nutr. 2002. PMID: 12187304 No abstract available.
Detection of Δ4-3-oxo-steroid 5β-reductase deficiency by LC-ESI-MS/MS measurement of urinary bile acids.
Muto A, Takei H, Unno A, Murai T, Kurosawa T, Ogawa S, Iida T, Ikegawa S, Mori J, Ohtake A, Hoshina T, Mizuochi T, Kimura A, Hofmann AF, Hagey LR, Nittono H. Muto A, et al. Among authors: takei h. J Chromatogr B Analyt Technol Biomed Life Sci. 2012 Jul 1;900:24-31. doi: 10.1016/j.jchromb.2012.05.023. Epub 2012 May 24. J Chromatogr B Analyt Technol Biomed Life Sci. 2012. PMID: 22695323
866 results