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Guidelines for the diagnosis and treatment of acute encephalopathy in childhood.
Mizuguchi M, Ichiyama T, Imataka G, Okumura A, Goto T, Sakuma H, Takanashi JI, Murayama K, Yamagata T, Yamanouchi H, Fukuda T, Maegaki Y. Mizuguchi M, et al. Among authors: murayama k. Brain Dev. 2021 Jan;43(1):2-31. doi: 10.1016/j.braindev.2020.08.001. Epub 2020 Aug 20. Brain Dev. 2021. PMID: 32829972 Review.
Leigh syndrome-like MRI changes in a patient with biallelic HPDL variants treated with ketogenic diet.
Numata-Uematsu Y, Uematsu M, Yamamoto T, Saitsu H, Katata Y, Oikawa Y, Saijyo N, Inui T, Murayama K, Ohtake A, Osaka H, Takanashi JI, Kure S, Inoue K. Numata-Uematsu Y, et al. Among authors: murayama k. Mol Genet Metab Rep. 2021 Sep 4;29:100800. doi: 10.1016/j.ymgmr.2021.100800. eCollection 2021 Dec. Mol Genet Metab Rep. 2021. PMID: 34522618 Free PMC article.
Mitochondrial complex deficiency by novel compound heterozygous TMEM70 variants and correlation with developmental delay, undescended testicle, and left ventricular noncompaction in a Japanese patient: A case report.
Hirono K, Ichida F, Nishio N, Ogawa-Tominaga M, Fushimi T, Feichtinger RG, Mayr JA, Kohda M, Kishita Y, Okazaki Y, Ohtake A, Murayama K. Hirono K, et al. Among authors: murayama k. Clin Case Rep. 2019 Feb 7;7(3):553-557. doi: 10.1002/ccr3.2050. eCollection 2019 Mar. Clin Case Rep. 2019. PMID: 30899493 Free PMC article.
A case report of Leigh syndrome diagnosed by endomyocardial biopsy.
Maruo Y, Ueda Y, Murayama K, Takeda A. Maruo Y, et al. Among authors: murayama k. Eur Heart J Case Rep. 2021 Feb 8;5(2):ytaa582. doi: 10.1093/ehjcr/ytaa582. eCollection 2021 Feb. Eur Heart J Case Rep. 2021. PMID: 33644659 Free PMC article.
Clinicopathologic Features of Mitochondrial Nephropathy.
Imasawa T, Hirano D, Nozu K, Kitamura H, Hattori M, Sugiyama H, Sato H, Murayama K; J-SMiN Collaborators. Imasawa T, et al. Among authors: murayama k. Kidney Int Rep. 2022 Jan 11;7(3):580-590. doi: 10.1016/j.ekir.2021.12.028. eCollection 2022 Mar. Kidney Int Rep. 2022. PMID: 35257070 Free PMC article.
MELAS syndrome with m.4450 G > A mutation in mitochondrial tRNAMet gene.
Kuwajima M, Goto M, Kurane K, Shimbo H, Omika N, Jimbo EF, Muramatsu K, Tajika M, Shimura M, Murayama K, Kurosawa K, Yamagata T, Osaka H. Kuwajima M, et al. Among authors: murayama k. Brain Dev. 2019 May;41(5):465-469. doi: 10.1016/j.braindev.2019.01.006. Epub 2019 Feb 7. Brain Dev. 2019. PMID: 30739820
1,082 results