| 1. |
Yamada K, Osawa Y, Kobayashi H, Bo R, Mushimoto Y, Hasegawa Y, Yamaguchi S, Taketani T, 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., Mol Genet Metab Rep.
, 10.1016, 2022.11. |
| 2. |
Matsushita H, Fujiyoshi T, Yoshimaru K, Matsuura T, Mushimoto Y, Karashima Y, Yamaura K., Anesthesia management in living-donor liver transplantation in a patient with carbamoyl phosphate synthetase deficiency: a case report., JA Clin Rep, 10.1186, 2022.09. |
| 3. |
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, The earliest enzyme replacement for infantile-onset Pompe disease in Japan, 10.1111, 2022.01. |
| 4. |
Ueyanagi Y, Setoyama D, Kawakami D, Mushimoto Y, Matsumoto S, Hotta T, Kang D., Fully Automated Quantitative Measurement of Serum Organic Acids via LC-MS/MS for the Diagnosis of Organic Acidemias: Establishment of an Automation System and a Proof-of-Concept Validation., Diagnostics , org/10.3390/diagnostics11122195, 2021.11. |
| 5. |
Kanako KI, Sakakibara N, Murayama K, Nagatani K, Murata S, Otake A, Koga Y, Suzuki H, Uehara T, Kosaki K, Yoshiura KI, Mishima H, Ichimiya Y, Mushimoto Y, Horinouchi T, Nagano C, Yamamura T, Iijima K, Nozu K., BCS1L mutations produce Fanconi syndrome with developmental disability., 10.1038, 2021.10. |
| 6. |
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., Brain-sparing cord blood transplantation for the borderline stage of adrenoleukodystrophy, Mol Genet Metab Rep, 10.1016/j.ymgmr.2021.100778, 2021.06. |
| 7. |
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)., A case report with functional characterization of a HNF1B mutation (p.Leu168Pro) causing MODY5., Endocrinol, 30, 179-185, 2021.04. |
| 8. |
Kido J, Matsumoto S, Ito T, Hirose S, Fukui K, Kojima-Ishii K, Mushimoto Y, Yoshida S, Ishige M, Sakai N, Nakamura K, Physical, cognitive, and social status of patients with urea cycle disorders in Japan, Mol Genet Metab Rep, 10.1016/j.ymgmr.2021.100724, 2021.02. |
| 9. |
虫本雄一、鈴木秀一、河野敦子、都研一, 低身長を主訴に受診した小児の5年後の現状, 日本小児科学会雑誌, 124, 9, 1380-1384, 2020.09. |
| 10. |
Mari Kurokawa, Michiko Torio, Kazuhiro Ohkubo, Vlad Tocan, Noriko Ohyama, Naoko Toda, Kanako Ishii, Kei Nishiyama, Yuichi Mushimoto, Ryuichi Sakamoto, Maki Nakaza, Riho Horie, Tomoya Kubota, Masanori P Takahashi, Yasunari Sakai, Masatoshi Nomura, Shouichi Ohga, The expanding phenotype of hypokalemic periodic paralysis in a Japanese family with p.Val876Glu mutation in CACNA1S, Mol Genet Genomic Med, 10.1002/mgg3.1175., 8, 4, e1175, 2020.04. |
| 11. |
Yamada K, Matsubara K, Matsubara Y, Watanabe A, Kawakami S, Ochi F, Kuwabara K, Mushimoto Y, Kobayashi H, Hasegawa Y, Fukuda S, Yamaguchi S, Taketani T, Clinical course in a patient with myopathic VLCAD deficiency during pregnancy with an affected baby., JIMD reports, 10.1002/jmd2.12061, 49, 1, 17-20, 2019.09. |
| 12. |
Keisuke Wada、Hironori Kobayashi、Aisa Moriyama、Yasuhiro Haneda、Yuichi Mushimoto、Yuki Hasegawa、Kazumichi Onigata、Koji Kumori、Noriyoshi Ishikawa、Riruke Maruyama、Tsuyoshi Sogo、Lynne Murphy, Takeshi Taketani, A case of an infant with congenital combined pituitary hormone deficiency and normalized liver histology of infantile cholestasis after hormone replacement therapy, Clin Pediatr Endocrinol, 10.1297/cpe.26.251., 26, 4, 251-257, 2017.09. |
| 13. |
Purevsuren J, Kobayashi H, Hasegawa Y, Mushimoto Y, Li H, Fukuda S, Shigematsu Y, Fukao T, Yamaguchi S.
, A novel molecular aspect of Japanese patients with medium-chain acyl-CoA dehydrogenase deficiency (MCADD): c.449-452delCTGA is a common mutation in Japanese patients with MCADD.
, Mol Genet Metab, 96, 2, 77-79, 2009.02. |
| 14. |
Mushimoto Y, Hasegawa Y, Kobayashi H, Li H, Purevsuren J, Nakamura I, Taketani T, Fukuda S, Yamaguchi S.
, Enzymatic evaluation of glutaric acidemia type 1 by an in vitro probe assay of acylcarnitine profiling using fibroblasts and electrospray ionization/tandem mass spectrometry (MS/MS).
, J Chromatogr B Analyt Technol Biomed Life Sci., 877, 25, 2648-2651, 2009.09. |
| 15. |
Li H, Fukuda S, Hasegawa Y, Kobayashi H, Purevsuren J, Mushimoto Y, Yamaguchi S.
, Effect of heat stress and bezafibrate on mitochondrial beta-oxidation: comparison between cultured cells from normal and mitochondrial fatty acid oxidation disorder children using in vitro probe acylcarnitine profiling assay.
, Brain Dev, 32, 5, 362-370, 2010.05. |
| 16. |
Jamiyan Purevsuren, Toshiyuki Fukao, Yuki Hasegawa, Hironori Kobayashi, Hong Li, Yuichi Mushimoto, Seiji Fukuda, Seiji Yamaguchi, Clinical and molecular aspects of Japanese patients with mitochondrial trifunctional protein deficiency, MOLECULAR GENETICS AND METABOLISM, 10.1016/j.ymgme.2009.07.011, 98, 4, 372-377, 2009.12, Mitochondrial trifunctional protein (MTP) deficiency is a rare inherited metabolic disorder of mitochondrial fatty acid oxidation. We newly characterized three novel mutations in 2 Japanese patients with MTP deficiency, and investigated the clinical and molecular aspects of 5 Japanese patients including 3 previously reported cases. Herein, we describe the characterization of four missense mutations, R214C, H346R, R411K, and V422G, in the HADHB gene, which have been identified in Japanese patients, employing a newly developed, sensitive transient expression analysis. Co-transfection of wild-type HADHA and HADHB cDNAs in SV40-transfected fibroblasts from a MTP-deficient patient yielded sufficient enzyme activity to evaluate low-level residual enzyme activity, using two incubation temperatures of 30 degrees C and 37 degrees C. At 30 degrees C, residual enzyme activity was higher than that at 37 degrees C in V422G, R214C, and 8411 K. However, H346R, which was seen in the most severe case, showed no enzyme activity at both temperatures. Our results demonstrate that a defect of HADHB in MTP deficiency is rather common in Japanese patients, and the mutational spectrum is heterogeneous. The present findings showed that all missense mutations in this study were disease-causing. Although the number of patients is still limited, it is suggested that the phenotype is correlated with the genotype and a combination of two mutant alleles of the HADHB gene in MTP deficiency. (C) 2009 Elsevier Inc. All rights reserved.. |
| 17. |
Li H, Fukuda S, Hasegawa Y, Purevsuren J, Kobayashi H, Mushimoto Y, Yamaguchi S.
, Heat stress deteriorates mitochondrial beta-oxidation of long-chain fatty acids in cultured fibroblasts with fatty acid beta-oxidation disorders.
, J Chromatogr B Analyt Technol Biomed Life Sci, 878, 20, 1669-1672, 2010.01. |
| 18. |
Endo M, Hasegawa Y, Fukuda S, Kobayashi H, Yotsumoto Y, Mushimoto Y, Li H, Purevsuren J, Yamaguchi S.
, In vitro probe acylcarnitine profiling assay using cultured fibroblasts and electrospray ionization tandem mass spectrometry predicts severity of patients with glutaric aciduria type 2.
, J Chromatogr B Analyt Technol Biomed Life Sci, 878, 20, 1673-1676, 2010.01. |
| 19. |
Seiji Fukuda, Kazuma Ogiso, Yuichi Mushimoto, Mariko Abe, Kenji Yasuda, Seiji Yamaguchi, Adenovirus serotype 31 infection in a newborn girl and review of the literature, PEDIATRICS INTERNATIONAL, 10.1111/j.1442-200X.2010.03260.x, 53, 3, 408-411, 2011.06. |
| 20. |
Mushimoto Y, Fukuda S, Hasegawa Y, Kobayashi H, Purevsuren J, Li H, Taketani T, Yamaguchi S, Clinical and molecular investigation of 19 Japanese cases of glutaric acidemia type 1, Mol Genet Metab
, 102, 343-348, 2011.03. |
| 21. |
Hamajima T, Mushimoto Y, Kobayashi H, Saito Y, Onigata K., Novel compound heterozygous mutations in the SBP2 gene: characteristic clinical manifestations and the implications of GH and triiodothyronine in longitudinal bone growth and maturation., Eur J Endocrinol, 166, 4, 757-764, 2012.04. |
| 22. |
Purevsuren J, Hasegawa Y, Fukuda S, Kobayashi H, Mushimoto Y, Yamada K, Takahashi T, Fukao T, Yamaguchi S.
, Clinical and molecular aspects of Japanese children with medium chain acyl-CoA dehydrogenase deficiency.
, Mol Genet Metab, 237-240, 2012.09. |
| 23. |
Yamaguchi S, Li H, Purevsuren J, Yamada K, Furui M, Takahashi T, Mushimoto Y, Kobayashi H, Hasegawa Y, Taketani T, Fukao T, Fukuda S.
, Bezafibrate can be a new treatment option for mitochondrial fatty acid oxidation disorders: evaluation by in vitro probe acylcarnitine assay.
, Mol Genet Metab, 237-240, 2012.09. |
| 24. |
Yamada K, Hasegawa Y, Yoshikawa Y, Takahashi T, Kobayashi H, Mushimoto Y, Purevsuren J, Yamaguchi S, Clinical study of organic acidemias and fatty acid oxidation disorders detected in adults, Rinsho Shinkeigaku, 53, 3, 191-195, 2013.03. |
| 25. |
Takeshi Taketani, Kazumichi Onigata, Hironori Kobayashi, Yuichi Mushimoto, Seiji Fukuda, Seiji Yamaguchi, Clinical and genetic aspects of hypophosphatasia in Japanese patients, ARCHIVES OF DISEASE IN CHILDHOOD, 10.1136/archdischild-2013-305037, 99, 3, 211-215, 2014.03, Objective We examined the clinical and genetic features of hypophosphatasia (HPP) in Japanese patients. HPP is a rare metabolic bone disorder of bone mineralisation caused by mutations in the liver/bone/kidney alkaline phosphatase (ALPL) gene, which encodes tissue-non-specific alkaline phosphatase isoenzyme.
Methods We retrospectively investigate the incidence and clinical features of 52 patients with paediatric HPP who were born between 1999 and 2010. Mutations of the ALPL gene were analysed in 31 patients.
Results The annual incidence of perinatal lethal HPP (PLH) was estimated to be 2-3/1 000 000 births. The most frequent clinical type was PLH followed by prenatal benign. In addition to bone symptoms, cerebral manifestations were frequently observed including convulsion, mental retardation, deafness and short stature with growth hormone deficiency. Respiratory failure was the most significant predictor of a poor prognosis for PLH. The first and second most frequent mutations in the ALPL gene were c.1559delT and c. T979C (p.F327L), respectively. The c.1559delT homozygous mutation was lethal with respiratory failure. Patients with the p.F327L compound heterozygous mutation had the different non-lethal type with short stature and a gradual improvement in ALP level and bone mineralisation.
Conclusions The most frequent clinical type was the PLH type with prognosis related to respiratory failure, biochemical/radiological changes and ALPL mutations. Cerebral manifestations frequently occurred. Genotype-phenotype correlations were associated with specific outcomes in the PLH type, whereas different clinical features were associated with the same genotype in the non-lethal type.. |
| 26. |
Yamamoto K, Fukuda S, Mushimoto Y, Minami N, Kanai R, Tsukamoto K, Yamaguchi S.
, Acute Myositis Associated with Concurrent Infection of Rotavirus and Norovirus in a 2-Year-Old Girl., Pediatr Rep, 7, 3, 51-53, 2015.09. |
| 27. |
Kenji Yamada, Hironori Kobayashi, Ryosuke Bo, Jamiyan Purevsuren, Yuichi Mushimoto, Tomoo Takahashi, Yuki Hasegawa, Takeshi Taketani, Seiji Fukuda, Seiji Yamaguchi, Efficacy of bezafibrate on fibroblasts of glutaric acidemia type II patients evaluated using an in vitro probe acylcarnitine assay, BRAIN & DEVELOPMENT, 10.1016/j.braindev.2016.08.004, 39, 1, 48-57, 2017.01, Introduction: We evaluated the effects of bezafibrate (BEZ) on beta-oxidation in fibroblasts obtained from patients with glutaric acidemia type II (GA2) of various clinical severities using an in vitro probe (IVP) assay.
Methods: Cultured fibroblasts from 12 patients with GA2, including cases of the neonatal-onset type both with and without congenital anomalies (the prenatal- and neonatal-onset forms, respectively), the infantile-onset, and the myopathic forms, were studied. The IVP assay was performed by measuring acylcarnitines (ACs) in the cell culture medium of fibroblasts incubated with palmitic acid for 96 h in the presence of 0-800 mu M BEZ using tandem mass spectrometry.
Results: The IVP assay showed that 100 mu M BEZ markedly reduced the level of palmitoylcarnitine (C16) in the neonatal-onset, infantile-onset, and myopathic forms of GA2, either increasing or maintaining a high level of acetylcarnitine (C2), which serves as an index of energy production via beta-oxidation. In the prenatal-onset form, although a small reduction of C16 was also observed in the presence of 100 mu M BEZ, the level of C2 remained low. At concentrations higher than 100 mu M, BEZ further decreased the level of ACs including C16, but a concentration over 400 mu M decreased the level of C2 in most cases.
Discussion: BEZ at 100 mu M was effective for all GA2 phenotypes except for the prenatal-onset form, as a reduction of C16 without deterioration of C2 is considered to indicate improvement of beta-oxidation. The effects of higher doses BEZ could not be estimated by the IVP assay but might be small or nonexistent. (C) 2016 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.. |
| 28. |
Wada K, Kobayashi H, Moriyama A, Haneda Y, Mushimoto Y, Hasegawa Y, Onigata K, Kumori K, Ishikawa N, Maruyama R, Sogo T, Murphy L, Taketani T, A case of an infant with congenital combined pituitary hormone deficiency and normalized liver histology of infantile cholestasis after hormone replacement therapy, Clin Pediatr Endocrinol, 26, 4, 251-257, 2017.09. |
| 29. |
虫本 雄一, 瀬島 斉, 竹谷 健, 岸 和子, 木村 正彦, 安田 謙二, 清水 麻衣子, 山口 清次, 複雑部分発作を併発したWest症候群の1例, 小児科臨床, 59, 1, 42-46, 2006.01. |
| 30. |
虫本 雄一, 小林 弘典, 安田 謙二, 竹谷 健, 山口 清次, 血清カルシウムが正常を示した偽性副甲状腺機能低下症I a型の1例, 小児科, 47, 2, 273-276, 2006.02. |
| 31. |
虫本 雄一, 山田 健二, 細木 康史, 葛西 武司, 病原性大腸菌O25ベロ毒素(-)家族内保菌者からの二次感染により血便が頻回再発したと考えられた姉弟例, 小児科臨床, 59, 11, 2329-2332, 2006.11. |
| 32. |
虫本 雄一, 金井 理恵, 小林 弘典, 竹谷 健, 安田 謙二, 久守 孝司, 葛西 武司, 山本 智彦, 丸山 理留敬, 中川 温子, 山口 清次, 巨大な肝転移を伴った内分泌非活性型副腎皮質癌の12歳男児例, 小児がん, 43, 4, 730-735, 2007.01. |
| 33. |
虫本 雄一, 日衛嶋 栄太郎, 米澤 環, 岡田 雅行, 白石 英幸
, 目で見る小児科 Diffuse neonatal hemangiomatosisを発症した1例
, 小児科 , 49, 9, 1171-1172, 2008.08. |
| 34. |
虫本 雄一, 日衛嶋 栄太郎, 内山 環, 岡田 雅行, 竹谷 健
, 早期の肝生検によって治療法を決定し化学療法を行わず良好な経過をとったtransient myeloproliferative disorder(TMD)の1例
, 日本未熟児新生児学会雑誌 , 21, 1, 65-70, 2009.02. |
| 35. |
虫本 雄一, 長谷川 有紀, 山口 清次, 田中 主美, 倉内 宏一郎, 山崎 雄一, 原因不明の脳症と診断されていたグルタル酸血症1型の兄妹例, 特殊ミルク情報(先天性代謝異常症の治療), 44, 23-26, 2008.11. |
| 36. |
虫本 雄一, 小林 弘典, 長谷川 有紀, 中村 勇, 山口 清次, 末梢リンパ球とタンデム質量分析を用いた日本人中鎖アシルCoA脱水素酵素(MCAD)欠損症3例の脂肪酸β酸化能の検討
, 日本マス・スクリーニング学会誌, 18, 3, 250-255, 2008.12. |
| 37. |
虫本 雄一, 小林 弘典, 長谷川 有紀, 坂本 修, 大浦 敏博, 山口 清次, 経過中血液ろ紙分析でカットオフ値を下回った極長鎖アシル-CoA脱水素酵素欠損症の2例 血清分析の必要性
, 日本マス・スクリーニング学会誌 , 19, 3, 255-259, 2009.12. |
| 38. |
虫本雄一、小林弘典、長谷川有紀、李紅、福田誠司、近藤陽一、脇口宏、藤枝幹也、高杉尚志、山口 結、吉良龍太郎、原寿郎、山口清次, 中鎖アシルCoA脱水素酵素欠損症日本人5症例の発症形態の検討
, 日本小児科学会雑誌, 113, 1800-1804, 2009.12. |
| 39. |
虫本 雄一, 竹谷 健, 長谷川 有紀, 小林 弘典, 福井 徹, 渡邊 敏明, 山口 清次, ステロイド抵抗性の難治性アトピー性皮膚炎として加療されていたビオチン欠乏の1例
, アレルギーの臨床 , 30, 6, 543-547, 2010.06. |
| 40. |
虫本雄一, 御牧信義, 小林弘典, 長谷川有紀, Jamiyan Purevsuren, 山田健治, 高橋知男, 山口清次, タンデムマス法による新生児マススクリーニングを契機に診断された母親のメチルクロトニルグリシン尿症, 日本マス・スクリーニング学会誌, 22, 3, 15-20, 2012.03. |
