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Phenotypic and genetic spectra of galactose mutarotase deficiency: A nationwide survey conducted in Japan.
Mikami-Saito Y, Wada Y, Arai-Ichinoi N, Nakajima Y, Suzuki-Ajihara S, Murayama K, Tanaka T, Numakura C, Hamazaki T, Igarashi N, Esaki H, Kagawa R, Kono T, Sawada T, Sawada T, Nyuzuki H, Hirai H, Fumoto S, Matsuda J, Matsunaga A, Maruyama S, Yamaguchi K, Yoshino M, Totsune E, Kikuchi A, Ohura T, Kure S. Mikami-Saito Y, et al. Among authors: maruyama s. Genet Med. 2024 Aug;26(8):101165. doi: 10.1016/j.gim.2024.101165. Epub 2024 May 16. Genet Med. 2024. PMID: 38762772 Free article.
Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity.
Tajima G, Hara K, Tsumura M, Kagawa R, Okada S, Sakura N, Maruyama S, Noguchi A, Awaya T, Ishige M, Ishige N, Musha I, Ajihara S, Ohtake A, Naito E, Hamada Y, Kono T, Asada T, Sasai H, Fukao T, Fujiki R, Ohara O, Bo R, Yamada K, Kobayashi H, Hasegawa Y, Yamaguchi S, Takayanagi M, Hata I, Shigematsu Y, Kobayashi M. Tajima G, et al. Among authors: maruyama s. Mol Genet Metab. 2017 Nov;122(3):67-75. doi: 10.1016/j.ymgme.2017.07.011. Epub 2017 Jul 31. Mol Genet Metab. 2017. PMID: 28801073
Three Japanese Patients with Beta-Ketothiolase Deficiency Who Share a Mutation, c.431A>C (H144P) in ACAT1 : Subtle Abnormality in Urinary Organic Acid Analysis and Blood Acylcarnitine Analysis Using Tandem Mass Spectrometry.
Fukao T, Maruyama S, Ohura T, Hasegawa Y, Toyoshima M, Haapalainen AM, Kuwada N, Imamura M, Yuasa I, Wierenga RK, Yamaguchi S, Kondo N. Fukao T, et al. Among authors: maruyama s. JIMD Rep. 2012;3:107-15. doi: 10.1007/8904_2011_72. Epub 2011 Sep 6. JIMD Rep. 2012. PMID: 23430882 Free PMC article.
Infantile Epileptic Spasms Syndrome Complicated by Leigh Syndrome and Leigh-Like Syndrome: A Retrospective, Nationwide, Multicenter Case Series.
Sasaki M, Okanishi T, Matsuoka T, Yoshimura A, Maruyama S, Shiohama T, Hoshino H, Mori T, Majima H, Matsumoto H, Kobayashi S, Chiyonobu T, Matsushige T, Nakamura K, Kubota K, Tanaka R, Fujita T, Enoki H, Suzuki Y, Nakamura S, Fujimoto A, Maegaki Y. Sasaki M, et al. Among authors: maruyama s. Pediatr Neurol. 2024 Aug;157:29-38. doi: 10.1016/j.pediatrneurol.2024.05.007. Epub 2024 May 15. Pediatr Neurol. 2024. PMID: 38848614
Systemic administration of the antisense oligonucleotide NS-089/NCNP-02 for skipping of exon 44 in patients with Duchenne muscular dystrophy: Study protocol for a phase I/II clinical trial.
Ishizuka T, Komaki H, Asahina Y, Nakamura H, Motohashi N, Takeshita E, Shimizu-Motohashi Y, Ishiyama A, Yonee C, Maruyama S, Hida E, Aoki Y. Ishizuka T, et al. Among authors: maruyama s. Neuropsychopharmacol Rep. 2023 Jun;43(2):277-286. doi: 10.1002/npr2.12335. Epub 2023 Apr 3. Neuropsychopharmacol Rep. 2023. PMID: 37326950 Free PMC article.
2,416 results