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.
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| Title: | 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. |
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| Authors: | Muto Y; Department of Pediatrics, Juntendo University Graduate School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo 113-8421, Japan., Suzuki M; Department of Pediatrics, Juntendo University Graduate School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo 113-8421, Japan. Electronic address: msuzuki@juntendo.ac.jp., Takei H; Junshin Clinic Bile Acid Institute, 2-1-24 Haramachi, Meguro-ku, Tokyo 152-0011, Japan., Saito N; Department of Pediatrics, Juntendo University Graduate School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo 113-8421, Japan., Mori J; Division of Pediatric Endocrinology and Metabolism, Children's Medical Center, Osaka City General Hospital, 2-13-22 Miyakojima-hondori, Miyakojima-ku, Osaka 534-0021, Japan., Sugimoto S; Department of Pediatrics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, 465 Kajii-cho, Kawaramachi-Hirokoji, Kamigyo-ku, Kyoto 602-8566, Japan., Imagawa K; Department of Child Health, Faculty of Medicine, University of Tsukuba, 1-1-1 Tennodai, Tsukuba, Ibaraki 305-8575, Japan., Nambu R; Division of Gastroenterology & Hepatology, Saitama Children's Medical Center, 1-2 Shintoshin, Chuo-ku, Saitama-city 330-8777, Japan., Oguri S; Department of Pediatrics, Oita University Faculty of Medicine, 1-1 Oji-shinmachi, Oita 870-0819, Japan., Itonaga T; Department of Pediatrics, Oita University Faculty of Medicine, 1-1 Oji-shinmachi, Oita 870-0819, Japan., Ihara K; Department of Pediatrics, Oita University Faculty of Medicine, 1-1 Oji-shinmachi, Oita 870-0819, Japan., Hayashi H; Laboratory of Molecular Pharmacokinetics, Graduate School of Pharmaceutical Science, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-0033, Japan., Murayama K; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, 2-1-1 Hongo, Bunkyo-ku, Tokyo 113-8421, Japan., Kakiyama G; Department of Internal Medicine, Virginia Commonwealth University School of Medicine, 1101 E. Marshall St., Richmond, VA 23298, USA; Central Virginia VA Healthcare System, 1201 Broad Rock Blvd., Richmond, VA 23249, USA., Nittono H; Junshin Clinic Bile Acid Institute, 2-1-24 Haramachi, Meguro-ku, Tokyo 152-0011, Japan., Shimizu T; Department of Pediatrics, Juntendo University Graduate School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo 113-8421, Japan. |
| Source: | Molecular genetics and metabolism [Mol Genet Metab] 2023 Sep-Oct; Vol. 140 (1-2), pp. 107703. Date of Electronic Publication: 2023 Sep 28. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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