Výsledky vyhledávání - "Kazumasa, Akiyama"

Japanese patients with mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency

Autor: Yasuhiko, Ago, Hiroki, Otsuka, Hideo, Sasai, Elsayed, Abdelkreem, Mina, Nakama, Yuka, Aoyama, Hideki, Matsumoto, Ryoji, Fujiki, Osamu, Ohara, Kazumasa, Akiyama, Kaori, Fukui, Yoriko, Watanabe, Yoko, Nakajima, Hidenori, Ohnishi, Tetsuya, Ito, Toshiyuki, Fukao

Publikováno v: Experimental and Therapeutic Medicine

Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase (HMGCS2) deficiency is a metabolic disorder caused by mutations in the HMGCS2 gene. The present study describes the identification of four cases of HMGCS2 deficiency in Japan. Hepatomegaly and sev

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::4f158afd948be2be6657faa82b977a97
https://pubmed.ncbi.nlm.nih.gov/32952630

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A method for measuring disease-specific iduronic acid from the non-reducing end of glycosaminoglycan in mucopolysaccharidosis type II mice

Autor: Takashi Higuchi, Yohta Shimada, Hiroo Hoshina, Hiroyuki Ida, Yoshikatsu Eto, Taichi Wakabayashi, Kazumasa Akiyama, Toya Ohashi, Hiroshi Kobayashi

Publikováno v: Molecular Genetics and Metabolism. 117:140-143

Mucopolysaccharidosis type II (MPS II) is an X-linked lysosomal storage disorder arising from deficiency of iduronate-2-sulfatase (IDS), which results in progressive accumulation of glycosaminoglycans (GAGs) in multiple tissues. Accumulated GAGs are

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4abcbea312a63321a08beaab3f219e48
https://doi.org/10.1016/j.ymgme.2015.05.009

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Japanese patients with mitochondrial 3‑hydroxy‑3‑methylglutaryl‑CoA synthase deficiency: In vitro functional analysis of five novel HMGCS2 mutations

Autor: Tetsuya Ito, Hideo Sasai, Ryoji Fujiki, Osamu Ohara, Kaori Fukui, Toshiyuki Fukao, Hideki Matsumoto, Yoriko Watanabe, Elsayed Abdelkreem, Hidenori Ohnishi, Yuka Aoyama, Hiroki Otsuka, Yasuhiko Ago, Kazumasa Akiyama, Mina Nakama, Yoko Nakajima

Publikováno v: Experimental and Therapeutic Medicine. 20:1-1

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::775b444b21eae1cdd7d668ac01b80800
https://doi.org/10.3892/etm.2020.9166

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Effect of donor chimerism to reduce the level of glycosaminoglycans following bone marrow transplantation in a murine model of mucopolysaccharidosis type II

Autor: Makoto Otsu, Toya Ohashi, Hiromitsu Nakauchi, Takashi Higuchi, Kentaro Yokoi, Masaharu Akiyama, Kazumasa Akiyama, Eiko Kaneshiro, Yohta Shimada, Hiroshi Kobayashi, Hiroyuki Ida

Publikováno v: Journal of Inherited Metabolic Disease. 38:333-340

Mucopolysaccharidosis type II (MPS II) is a lysosomal storage disorder caused by deficient activity of the iduronate-2-sulfatase. This leads to accumulation of glycosaminoglycans (GAGs) in the lysosomes of various cells. Although it has been proposed

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e259bdbf1df1cfe048e4ce692984d2e
https://doi.org/10.1007/s10545-014-9800-x

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Enzyme augmentation therapy enhances the therapeutic efficacy of bone marrow transplantation in mucopolysaccharidosis type II mice

Autor: Kazumasa Akiyama, Takashi Higuchi, Makoto Ohtsu, Brett E. Crawford, Yoshikatsu Eto, Takahiro Fukuda, Yohta Shimada, Jillian R. Brown, Hiroyuki Ida, Hiroshi Kobayashi, Toya Ohashi, Hiromitsu Nakauchi

Publikováno v: Molecular Genetics and Metabolism. 111:139-146

Before the availability of an enzyme replacement therapy (ERT) for mucopolysaccharidosis type II (MPS II), patients were treated by bone marrow transplantation (BMT). However, the effectiveness of BMT for MPS II was equivocal, particularly at address

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec720e2f6e9b799d26a1d0091c8debcd
https://doi.org/10.1016/j.ymgme.2013.09.013

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Non-myeloablative preconditioning with ACK2 (anti-c-kit antibody) is efficient in bone marrow transplantation for murine models of mucopolysaccharidosis type II

Autor: Hiroshi Kobayashi, Toya Ohashi, Hiromitsu Nakauchi, Taku Sato, Takayuki Yokoi, Toshiaki Ohteki, Kazumasa Akiyama, Yohta Shimada, Takashi Higuchi, Makoto Otsu, Hiroyuki Ida, Kentarou Yokoi

Publikováno v: Molecular genetics and metabolism. 119(3)

Mucopolysaccharidosis type II (MPS II) is a lysosomal storage disease caused by the deficient activity of iduronate 2-sulfatase (IDS), which is involved in the lysosomal catabolism of the glycosaminoglycans (GAGs) dermatan and heparan sulfate. Such a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a075d544b73f8a89b537b82ed5e6ed6f
https://pubmed.ncbi.nlm.nih.gov/27590924

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Corticosteroid Pulse Combination Therapy for Refractory Kawasaki Disease: A Randomized Trial

Autor: Kazumasa Akiyama, Shinya Kon, Masahiro Ishii, Shohei Ogata, Yoshihito Ogihara, Takashi Honda

Publikováno v: Pediatrics. 129:e17-e23

Objective:This study examined the clinical efficacy and safety of intravenous methylprednisolone-pulse plus intravenous immunoglobulin (IVIG) combination therapy (IVMP+IVIG) for the initial treatment of patients predicted to have refractory Kawasaki

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d04f4ce81d9350498dac6a1d610fd26e
https://doi.org/10.1542/peds.2011-0148

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Clinical Score and Transcript Abundance Patterns Identify Kawasaki Disease Patients Who May Benefit From Addition of Methylprednisolone

Autor: Katsunori Minoura, Masahiro Ishii, Kazumasa Akiyama, Keiko Nomoto, Yoshihito Ogihara, Kayoko Sato, Yayoi Nakahata, Hirosuke Kobayashi, Shohei Ogata, Kenichi Kokubo

Publikováno v: Pediatric Research. 66:577-584

Intravenous immunoglobulin (IVIG) treatment-resistant patients are high risk of developing coronary artery lesions with Kawasaki disease. The IVIG-responsive (Group A; n = 6) and IVIG-resistant patients (Group B) were predicted before starting the in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e9646bbd06b01f42d137ced6fe66792
https://doi.org/10.1203/pdr.0b013e3181baa3c2

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Hematopoietic Stem Cell Gene Therapy Corrects Neuropathic Phenotype in Murine Model of Mucopolysaccharidosis Type II

Autor: Toya Ohashi, Kazumasa Akiyama, Yohta Shimada, Hiroshi Kobayashi, Takashi Higuchi, Taichi Wakabayashi, Yoshikatsu Eto, Takahiro Fukuda, Hiroyuki Ida

Publikováno v: Human gene therapy. 26(6)

Mucopolysaccharidosis type II (MPS II) is a neuropathic lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase (IDS), which leads to the accumulation of glycosaminoglycans (GAGs). We demonstrated that biochemical alterations in th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::239de419ec15f6e126944757e31d7bb1
https://pubmed.ncbi.nlm.nih.gov/25761450

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Noninvasive assessment of pulmonary vascular resistance and pressure in patients with congenital heart disease: a new method using M-mode echocardiography

Autor: Masahiro Ishii, Kazumasa Akiyama, Yayoi Nakahata, Sumito Kimura, Yoshito Ogihara, Hisashi Ando, Shohei Ogata, Takashi Honda

Publikováno v: Journal of echocardiography. 9(4)

The accurate evaluation of pulmonary vascular resistance (PVR) and mean pulmonary artery pressure is important to determine the optimal management and therapeutic strategy for patients with congenital heart disease (CHD). We evaluated the PVR and mea

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f932059a878204ba24dfabf08aaa66d
https://pubmed.ncbi.nlm.nih.gov/27277290

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