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The earliest enzyme replacement for infantile-onset Pompe disease in Japan.
Tocan V, Mushimoto Y, Kojima-Ishii K, Matsuda A, Toda N, Toyomura D, Hirata Y, Sanefuji M, Sawada T, Sakai Y, Nakamura K, Ohga S. Tocan V, et al. Among authors: mushimoto y. Pediatr Int. 2022 Jan;64(1):e15286. doi: 10.1111/ped.15286. Pediatr Int. 2022. PMID: 36074069
The expanding phenotype of hypokalemic periodic paralysis in a Japanese family with p.Val876Glu mutation in CACNA1S.
Kurokawa M, Torio M, Ohkubo K, Tocan V, Ohyama N, Toda N, Ishii K, Nishiyama K, Mushimoto Y, Sakamoto R, Nakaza M, Horie R, Kubota T, Takahashi MP, Sakai Y, Nomura M, Ohga S. Kurokawa M, et al. Among authors: mushimoto y. Mol Genet Genomic Med. 2020 Apr;8(4):e1175. doi: 10.1002/mgg3.1175. Epub 2020 Feb 27. Mol Genet Genomic Med. 2020. PMID: 32104981 Free PMC article.
Physical, cognitive, and social status of patients with urea cycle disorders in Japan.
Kido J, Matsumoto S, Ito T, Hirose S, Fukui K, Kojima-Ishii K, Mushimoto Y, Yoshida S, Ishige M, Sakai N, Nakamura K. Kido J, et al. Among authors: mushimoto y. Mol Genet Metab Rep. 2021 Feb 7;27:100724. doi: 10.1016/j.ymgmr.2021.100724. eCollection 2021 Jun. Mol Genet Metab Rep. 2021. PMID: 33614409 Free PMC article.
Brain-sparing cord blood transplantation for the borderline stage of adrenoleukodystrophy.
Yada Y, Torio M, Koga Y, Yamashita F, Ichimura T, Eguchi K, Ishimura M, Mushimoto Y, Hiwatashi A, Sasazuki M, Kira R, Sakai Y, Ohga S. Yada Y, et al. Among authors: mushimoto y. Mol Genet Metab Rep. 2021 Jun 24;28:100778. doi: 10.1016/j.ymgmr.2021.100778. eCollection 2021 Sep. Mol Genet Metab Rep. 2021. PMID: 34221897 Free PMC article.
Critical diseases in neonates after discharge home from birth hospital: A retrospective study from a tertiary hospital in Japan.
Fujiyoshi J, Inoue H, Sawano T, Mushimoto Y, Motomura Y, Nishiyama K, Kaku N, Nagata H, Yamamura K, Ishimura M, Koga Y, Ochiai M, Sakai Y, Tajiri T, Ohga S. Fujiyoshi J, et al. Among authors: mushimoto y. Early Hum Dev. 2023 Nov;186:105869. doi: 10.1016/j.earlhumdev.2023.105869. Epub 2023 Sep 26. Early Hum Dev. 2023. PMID: 37774632
High-Titer Anti-ZSCAN1 Antibodies in a Toddler Clinically Diagnosed with Apparent Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Syndrome.
Tocan V, Nakamura-Utsunomiya A, Sonoda Y, Matsuoka W, Mizuguchi S, Muto Y, Hijioka T, Nogami M, Sasaoka D, Nagamatsu F, Oba U, Kawakubo N, Hamada H, Mushimoto Y, Chong PF, Kaku N, Koga Y, Sakai Y, Oda Y, Tajiri T, Ohga S. Tocan V, et al. Among authors: mushimoto y. Int J Mol Sci. 2024 Feb 29;25(5):2820. doi: 10.3390/ijms25052820. Int J Mol Sci. 2024. PMID: 38474067 Free PMC article.
A case report with functional characterization of a HNF1B mutation (p.Leu168Pro) causing MODY5.
Yoshida K, Mushimoto Y, Tanase-Nakao K, Akiba K, Ishii K, Urakami T, Sugihara S, Kikuchi T, Fukami M, Narumi S; Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes (JSGIT). Yoshida K, et al. Among authors: mushimoto y. Clin Pediatr Endocrinol. 2021;30(4):179-185. doi: 10.1297/cpe.30.179. Epub 2021 Oct 1. Clin Pediatr Endocrinol. 2021. PMID: 34629740 Free PMC article.
Clinical and molecular investigation of 37 Japanese patients with multiple acyl-CoA dehydrogenase deficiency: p.Y507D in ETFDH, a common Japanese variant, causes a mortal phenotype.
Yamada K, Osawa Y, Kobayashi H, Bo R, Mushimoto Y, Hasegawa Y, Yamaguchi S, Taketani T. Yamada K, et al. Among authors: mushimoto y. Mol Genet Metab Rep. 2022 Nov 14;33:100940. doi: 10.1016/j.ymgmr.2022.100940. eCollection 2022 Dec. Mol Genet Metab Rep. 2022. PMID: 36406819 Free PMC article.
Guidelines for Newborn Screening of Congenital Hypothyroidism (2021 Revision).
Nagasaki K, Minamitani K, Nakamura A, Kobayashi H, Numakura C, Itoh M, Mushimoto Y, Fujikura K, Fukushi M, Tajima T. Nagasaki K, et al. Among authors: mushimoto y. Clin Pediatr Endocrinol. 2023;32(1):26-51. doi: 10.1297/cpe.2022-0063. Epub 2022 Dec 4. Clin Pediatr Endocrinol. 2023. PMID: 36761493 Free PMC article.
33 results