Zobrazeno 1 - 10
of 544
pro vyhledávání: '"Haruo Shintaku"'
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 21, Iss , Pp 67-75 (2021)
This open-label, phase 1/2 study (JMACCT CTR JMA-IIA00350) evaluated the efficacy and safety of intracerebroventricular idursulfase beta in patients with mucopolysaccharidosis II (MPS II). Herein, we report the 100-week results. Six patients with sev
Externí odkaz:
https://doaj.org/article/c5734ea34e0c4576912bacda84046c5b
Autor:
Chie Fujisawa, Hiroko Kodama, Yasuhiro Sato, Masakazu Mimaki, Mariko Yagi, Hiroyuki Awano, Muneaki Matsuo, Haruo Shintaku, Sayaka Yoshida, Masaki Takayanagi, Mitsuru Kubota, Akihito Takahashi, Yoshikiyo Akasaka
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 31, Iss , Pp 100849- (2022)
Menkes disease (MD) is an X-linked recessive disorder caused by mutations in ATP7A. Patients with MD exhibit severe neurological and connective tissue disorders due to copper deficiency and typically die before 3 years of age. Early treatment with co
Externí odkaz:
https://doaj.org/article/f8c4161e9892446a81dc2393c238b3f6
Autor:
Emi Tanaka, Yuko Ogawa, Ritsuko Fujii, Tomomi Shimonaka, Yoshiaki Sato, Takashi Hamazaki, Tokiko Nagamura-Inoue, Haruo Shintaku, Masahiro Tsuji
Publikováno v:
Scientific Reports, Vol 10, Iss 1, Pp 1-12 (2020)
Abstract Ischemic brain injury provokes complex, time-dependent downstream pathways that ultimately lead to cell death. We aimed to demonstrate the levels of a wide range of metabolites in brain lysates and their on-tissue distribution following neon
Externí odkaz:
https://doaj.org/article/642301be6d594791aaff0e5f015b232c
Autor:
Go Kawano, Takaoki Yokochi, Ryuta Nishikomori, Yoriko Watanabe, Keizo Ohbu, Yukitoshi Takahashi, Haruo Shintaku, Toyojiro Matsuishi
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Background: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy is a rare autosomal recessive disorder caused by a mutation in the autoimmune regulator gene. Patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy typi
Externí odkaz:
https://doaj.org/article/eb7c93aa9feb480db7a8d71b896a734d
Autor:
Saki Kasuga, Daijiro Kabata, Tomoko Sakaguchi, Satoshi Kudoh, Satsuki Nishigaki, Yusuke Higa, Shiori Fujikawa, Hiroko Fujitani, Ayumi Shintani, Takashi Hamazaki, Haruo Shintaku
Publikováno v:
Allergology International, Vol 68, Iss 1, Pp 96-100 (2019)
Background: Pteridines are metabolites of tetrahydrobiopterin, which serves as co-enzyme of nitric oxide synthase. We sought to investigate the usefulness of pteridines as biomarkers for childhood asthma control. Methods: We conducted a single-center
Externí odkaz:
https://doaj.org/article/a9dc33c7784a4930b8447e287bc68f24
Autor:
Molly Stapleton, Francyne Kubaski, Robert W. Mason, Haruo Shintaku, Hironori Kobayashi, Seiji Yamaguchi, Takeshi Taketani, Yasuyuki Suzuki, Kenji Orii, Tadao Orii, Toshiyuki Fukao, Shunji Tomatsu
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 22, Iss , Pp - (2020)
Mucopolysaccharidoses (MPS) are a family of lysosomal storage disorders which can lead to degenerative and irreversible skeletal, cardiovascular, pulmonary, and neurological damage. Current treatments, including hematopoietic stem cell transplantatio
Externí odkaz:
https://doaj.org/article/b40847e2cc744d6497014a2d4ca0d659
Autor:
Yogik Onky Silvana Wijaya, Hisahide Nishio, Emma Tabe Eko Niba, Kentaro Okamoto, Haruo Shintaku, Yasuhiro Takeshima, Toshio Saito, Masakazu Shinohara, Hiroyuki Awano
Publikováno v:
Genes, Vol 12, Iss 10, p 1621 (2021)
Spinal muscular atrophy (SMA) is a lower motor neuron disease, once considered incurable. The main symptoms are muscle weakness and muscular atrophy. More than 90% of cases of SMA are caused by homozygous deletion of survival motor neuron 1 (SMN1). E
Externí odkaz:
https://doaj.org/article/4d370cf9dc354d0db7dcbded207cc29b
Autor:
Haruo Shintaku
Publikováno v:
Neural Regeneration Research, Vol 16, Iss 4, Pp 672-673 (2021)
Externí odkaz:
https://doaj.org/article/4437c38405544b05a9977613ef79d89a
Autor:
Tomokazu Kimizu, Shinobu Ida, Kentaro Okamoto, Hiroyuki Awano, Emma Tabe Eko Niba, Yogik Onky Silvana Wijaya, Shin Okazaki, Hideki Shimomura, Tomoko Lee, Koji Tominaga, Shin Nabatame, Toshio Saito, Takashi Hamazaki, Norio Sakai, Kayoko Saito, Haruo Shintaku, Kandai Nozu, Yasuhiro Takeshima, Kazumoto Iijima, Hisahide Nishio, Masakazu Shinohara
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 3, p 45 (2021)
Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder that causes degeneration of anterior horn cells in the human spinal cord and subsequent loss of motor neurons. The severe form of SMA is among the genetic diseases with the highest inf
Externí odkaz:
https://doaj.org/article/35375ab8c6b047b3ab177e55c89f6e53
Autor:
Chen Wu, Takeo Iwamoto, Junko Igarashi, Takashi Miyajima, Mohammad Arif Hossain, Hiroko Yanagisawa, Keiko Akiyama, Haruo Shintaku, Yoshikatsu Eto
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 12, Iss C, Pp 115-118 (2017)
X-linked adrenoleukodystrophy (X-ALD) is a rare inherited metabolic disease that results in the accumulation of very long chain fatty acids (VLCFA) in plasma and all tissues. Recent studies regarding cerebral X-ALD (CALD) treatment emphasize the impo
Externí odkaz:
https://doaj.org/article/53cecbebb81a4aac93debd1538eccfae