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Page 1
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Vogel GF, Mozer-Glassberg Y, Landau YE, Schlieben LD, Prokisch H, Feichtinger RG, Mayr JA, Brennenstuhl H, Schröter J, Pechlaner A, Alkuraya FS, Baker JJ, Barcia G, Baric I, Braverman N, Burnyte B, Christodoulou J, Ciara E, Coman D, Das AM, Darin N, Della Marina A, Distelmaier F, Eklund EA, Ersoy M, Fang W, Gaignard P, Ganetzky RD, Gonzales E, Howard C, Hughes J, Konstantopoulou V, Kose M, Kerr M, Khan A, Lenz D, McFarland R, Margolis MG, Morrison K, Müller T, Murayama K, Nicastro E, Pennisi A, Peters H, Piekutowska-Abramczuk D, Rötig A, Santer R, Scaglia F, Schiff M, Shagrani M, Sharrard M, Soler-Alfonso C, Staufner C, Storey I, Stormon M, Taylor RW, Thorburn DR, Teles EL, Wang JS, Weghuber D, Wortmann S. Vogel GF, et al. Among authors: murayama k. Genet Med. 2023 Jun;25(6):100314. doi: 10.1016/j.gim.2022.09.015. Epub 2022 Oct 29. Genet Med. 2023. PMID: 36305855 Free article.
Novel ITPA variants identified by whole genome sequencing and RNA sequencing.
Omichi N, Kishita Y, Nakama M, Sasai H, Terazawa A, Kobayashi E, Fushimi T, Sugiyama Y, Ichimoto K, Nitta KR, Yatsuka Y, Ohtake A, Murayama K, Okazaki Y. Omichi N, et al. Among authors: murayama k. J Hum Genet. 2023 Sep;68(9):649-652. doi: 10.1038/s10038-023-01156-y. Epub 2023 May 29. J Hum Genet. 2023. PMID: 37246162
Living donor liver transplantation for myocerebrohepatopathy spectrum due to POLG mutations.
Kadohisa M, Okamoto T, Yamamoto M, Uebayashi EY, Sonoda M, Ogawa E, Yokoyama A, Kawasaki H, Hiejima E, Ito S, Togawa T, Imagawa K, Murayama K, Okajima H, Hatano E. Kadohisa M, et al. Among authors: murayama k. Pediatr Transplant. 2024 Feb;28(1):e14659. doi: 10.1111/petr.14659. Epub 2023 Nov 27. Pediatr Transplant. 2024. PMID: 38012111
Association between maternally inherited deafness, epilepsy, and intellectual disability and the m.12207G > A MT-TS2 pathogenic variant in a Japanese family.
Suzuki-Ajihara S, Saito-Tsuruoka M, Harashima H, Arai K, Koide H, Yatsuka Y, Imai-Okazaki A, Okazaki Y, Murayama K, Numakura C, Akioka Y, Ohtake A. Suzuki-Ajihara S, et al. Among authors: murayama k. Mol Genet Metab Rep. 2023 Mar 17;35:100966. doi: 10.1016/j.ymgmr.2023.100966. eCollection 2023 Jun. Mol Genet Metab Rep. 2023. PMID: 36967720 Free PMC article.
Total and reduced/oxidized forms of coenzyme Q10 in fibroblasts of patients with mitochondrial disease.
Watanabe C, Osaka H, Watanabe M, Miyauchi A, Jimbo EF, Tokuyama T, Uosaki H, Kishita Y, Okazaki Y, Onuki T, Ebihara T, Aizawa K, Murayama K, Ohtake A, Yamagata T. Watanabe C, et al. Among authors: murayama k. Mol Genet Metab Rep. 2023 Jan 3;34:100951. doi: 10.1016/j.ymgmr.2022.100951. eCollection 2023 Mar. Mol Genet Metab Rep. 2023. PMID: 36632326 Free PMC article.
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: murayama k. 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
Adult-onset Leigh Syndrome with a m.9176T>C Mutation Manifested As Reversible Cerebral Vasoconstriction Syndrome.
Ohyama-Tamagake A, Kaneko K, Itami R, Nakano M, Namioka Y, Izumi R, Sato H, Suzuki H, Takeda A, Okazaki Y, Yatsuka Y, Abe T, Murayama K, Sugeno N, Misu T, Aoki M. Ohyama-Tamagake A, et al. Among authors: murayama k. Intern Med. 2023 Jul 1;62(13):1995-1998. doi: 10.2169/internalmedicine.0773-22. Epub 2022 Dec 21. Intern Med. 2023. PMID: 36543208 Free PMC article.
Reply to the Letter "Reversible Vasoconstriction Syndrome Is a Complication of SARS-CoV-2 Infection/Vaccination Rather than That of Leigh Syndrome".
Ohyama-Tamagake A, Kaneko K, Itami R, Nakano M, Namioka Y, Izumi R, Sato H, Suzuki H, Takeda A, Yatsuka Y, Okazaki Y, Abe T, Murayama K, Sugeno N, Misu T, Aoki M. Ohyama-Tamagake A, et al. Among authors: murayama k. Intern Med. 2023 Jul 15;62(14):2159-2160. doi: 10.2169/internalmedicine.1962-23. Epub 2023 Apr 21. Intern Med. 2023. PMID: 37081677 Free PMC article. No abstract available.
1,085 results