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423 results

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Page 1
Valine metabolites analysis in ECHS1 deficiency.
Kuwajima M, Kojima K, Osaka H, Hamada Y, Jimbo E, Watanabe M, Aoki S, Sato-Shirai I, Ichimoto K, Fushimi T, Murayama K, Ohtake A, Kohda M, Kishita Y, Yatsuka Y, Uchino S, Mimaki M, Miyake N, Matsumoto N, Okazaki Y, Ogata T, Yamagata T, Muramatsu K. Kuwajima M, et al. Among authors: uchino s. Mol Genet Metab Rep. 2021 Oct 9;29:100809. doi: 10.1016/j.ymgmr.2021.100809. eCollection 2021 Dec. Mol Genet Metab Rep. 2021. PMID: 34667719 Free PMC article.
COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency.
Inoue M, Uchino S, Iida A, Noguchi S, Hayashi S, Takahashi T, Fujii K, Komaki H, Takeshita E, Nonaka I, Okada Y, Yoshizawa T, Van Lommel L, Schuit F, Goto YI, Mimaki M, Nishino I. Inoue M, et al. Among authors: uchino s. Ann Neurol. 2019 Aug;86(2):193-202. doi: 10.1002/ana.25517. Epub 2019 Jul 2. Ann Neurol. 2019. PMID: 31155743
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.
Bonora E, Chakrabarty S, Kellaris G, Tsutsumi M, Bianco F, Bergamini C, Ullah F, Isidori F, Liparulo I, Diquigiovanni C, Masin L, Rizzardi N, Cratere MG, Boschetti E, Papa V, Maresca A, Cenacchi G, Casadio R, Martelli P, Matera I, Ceccherini I, Fato R, Raiola G, Arrigo S, Signa S, Sementa AR, Severino M, Striano P, Fiorillo C, Goto T, Uchino S, Oyazato Y, Nakamura H, Mishra SK, Yeh YS, Kato T, Nozu K, Tanboon J, Morioka I, Nishino I, Toda T, Goto YI, Ohtake A, Kosaki K, Yamaguchi Y, Nonaka I, Iijima K, Mimaki M, Kurahashi H, Raams A, MacInnes A, Alders M, Engelen M, Linthorst G, de Koning T, den Dunnen W, Dijkstra G, van Spaendonck K, van Gent DC, Aronica EM, Picco P, Carelli V, Seri M, Katsanis N, Duijkers FAM, Taniguchi-Ikeda M, De Giorgio R. Bonora E, et al. Among authors: uchino s. Brain. 2021 Jun 22;144(5):1451-1466. doi: 10.1093/brain/awab056. Brain. 2021. PMID: 33855352 Free article.
Clinical and genetic characteristics of patients with Doose syndrome.
Hinokuma N, Nakashima M, Asai H, Nakamura K, Akaboshi S, Fukuoka M, Togawa M, Oana S, Ohno K, Kasai M, Ogawa C, Yamamoto K, Okumiya K, Chong PF, Kira R, Uchino S, Fukuyama T, Shinagawa T, Miyata Y, Abe Y, Hojo A, Kobayashi K, Maegaki Y, Ishikawa N, Ikeda H, Amamoto M, Mizuguchi T, Iwama K, Itai T, Miyatake S, Saitsu H, Matsumoto N, Kato M. Hinokuma N, et al. Among authors: uchino s. Epilepsia Open. 2020 Jul 23;5(3):442-450. doi: 10.1002/epi4.12417. eCollection 2020 Sep. Epilepsia Open. 2020. PMID: 32913952 Free PMC article.
Comparison of bioactive substances in novel-developed freeze-dried platelet-rich plasma (PRP) and activated normal PRP, and investigation of bioactive substance levels after long-term storage.
Nakajima R, Saita Y, Kobayashi Y, Wakayama T, Uchino S, Momoi Y, Yamamoto N, Ishijima M. Nakajima R, et al. Among authors: uchino s. Regen Ther. 2024 Mar 27;27:200-206. doi: 10.1016/j.reth.2024.03.021. eCollection 2024 Dec. Regen Ther. 2024. PMID: 38571893 Free PMC article.
High versus low chloride load in adult hyperglycemic emergencies with acute kidney injury: a multicenter retrospective cohort study.
Takahashi K, Uenishi N, Sanui M, Uchino S, Yonezawa N, Takei T, Nishioka N, Kobayashi H, Otaka S, Yamamoto K, Yasuda H, Kosaka S, Tokunaga H, Fujiwara N, Kondo T, Ishida T, Komatsu T, Endo K, Moriyama T, Oyasu T, Hayakawa M, Hoshino A, Matsuyama T, Miyamoto Y, Yanagisawa A, Wakabayashi T, Ueda T, Komuro T, Sugimoto T, Sasabuchi Y. Takahashi K, et al. Among authors: uchino s. Intern Emerg Med. 2024 Mar 15. doi: 10.1007/s11739-024-03556-0. Online ahead of print. Intern Emerg Med. 2024. PMID: 38488997
Prognostic evaluation of quick sequential organ failure assessment score in ICU patients with sepsis across different income settings.
Li A, Ling L, Qin H, Arabi YM, Myatra SN, Egi M, Kim JH, Nor MBM, Son DN, Fang WF, Wahyuprajitno B, Hashmi M, Faruq MO, Patjanasoontorn B, Al Bahrani MJ, Shrestha BR, Shrestha U, Nafees KMK, Sann KK, Palo JEM, Mendsaikhan N, Konkayev A, Detleuxay K, Chan YH, Du B, Divatia JV, Koh Y, Phua J; MOSAICS II Study Group; Asian Critical Care Clinical Trials Group. Li A, et al. Crit Care. 2024 Jan 23;28(1):30. doi: 10.1186/s13054-024-04804-7. Crit Care. 2024. PMID: 38263076 Free PMC article.
423 results