| 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. |
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. |
| 8. |
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. |
| 9. |
Clinical course in a patient with myopathic VLCAD deficiency during pregnancy with an affected baby.. |
| 10. |
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. |
| 11. |
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.. |
| 12. |
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. |
| 13. |
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.. |
| 14. |
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.. |
