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Page 1
A Case of Cardiogenic Shock due to Propionic Acidemia-Associated Cardiomyopathy Successfully Treated with a Combination of Mechanical Circulatory Support and Medical Therapy.
Ishikawa Y, Fujino T, Hashimoto T, Shinohara K, Matsushima S, Fuke Y, Ushijima T, Sonoda H, Nakashima Y, Mushimoto Y, Ishii K, Ide T, Tsutsui H, Kinugawa S, Shiose A, Abe K. Ishikawa Y, et al. Among authors: mushimoto y. Int Heart J. 2024;65(6):1172-1176. doi: 10.1536/ihj.24-364. Int Heart J. 2024. PMID: 39617506 Free article.
Rapid and long-lasting efficacy of high-dose ambroxol therapy for neuronopathic Gaucher disease: A case report and literature review.
Higashi K, Sonoda Y, Kaku N, Fujii F, Yamashita F, Lee S, Tocan V, Ebihara G, Matsuoka W, Tetsuhara K, Sonoda M, Chong PF, Mushimoto Y, Kojima-Ishii K, Ishimura M, Koga Y, Fukuta A, Tsuchihashi NA, Kikuchi Y, Karashima T, Sawada T, Hotta T, Yoshimitsu M, Terazono H, Tajiri T, Nakagawa T, Sakai Y, Nakamura K, Ohga S. Higashi K, et al. Among authors: mushimoto y. Mol Genet Genomic Med. 2024 Apr;12(4):e2427. doi: 10.1002/mgg3.2427. Mol Genet Genomic Med. 2024. PMID: 38553911 Free PMC article. Review.
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.
Genotype-Phenotype Correlations in 30 Japanese Patients With Congenital Hypothyroidism Attributable to TG Defects.
Tanase-Nakao K, Iwahashi-Odano M, Sugisawa C, Abe K, Muroya K, Yamamoto Y, Kawada Y, Mushimoto Y, Ohkubo K, Kinjo S, Shimura K, Aoyama K, Mizuno H, Hotsubo T, Takahashi C, Isojima T, Kina Y, Takakuwa S, Hamada J, Sawaki M, Shigehara K, Sugimoto S, Etani Y, Narumi-Wakayama H, Mine Y, Hasegawa T, Hishinuma A, Narumi S. Tanase-Nakao K, et al. Among authors: mushimoto y. J Clin Endocrinol Metab. 2024 Aug 13;109(9):2358-2365. doi: 10.1210/clinem/dgae098. J Clin Endocrinol Metab. 2024. PMID: 38373250
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
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.
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.
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
35 results