Zobrazeno 1 - 10
of 148
pro vyhledávání: '"Takahito, Inoue"'
Autor:
Yusuke Hattori, Takaaki Sawada, Jun Kido, Keishin Sugawara, Shinichiro Yoshida, Shirou Matsumoto, Takahito Inoue, Shinichi Hirose, Kimitoshi Nakamura
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101003- (2023)
Mucopolysaccharidosis II (MPS II) is an X-linked, recessive, inborn metabolic disorder caused by defects in iduronate-2-sulfatase (IDS). The age at onset, disease severity, and rate of progression vary significantly among patients. This disease is cl
Externí odkaz:
https://doaj.org/article/642c5eeae3634f7fa2a355daad47e2e0
Publikováno v:
Journal of the American College of Emergency Physicians Open, Vol 4, Iss 3, Pp n/a-n/a (2023)
Externí odkaz:
https://doaj.org/article/80ce08f469cf4b13b737f95f1ac33795
Autor:
Takaaki Sawada, Jun Kido, Keishin Sugawara, Ken Momosaki, Shinichiro Yoshida, Kanako Kojima-Ishii, Takahito Inoue, Shirou Matsumoto, Fumio Endo, Shouichi Ohga, Shinichi Hirose, Kimitoshi Nakamura
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-14 (2021)
Abstract Background Pompe disease is an autosomal recessive inherited metabolic disorder caused by a deficiency of the acid α-glucosidase (GAA). Pompe disease manifests as an accumulation of lysosomal glycogen in the skeletal and heart muscle. We co
Externí odkaz:
https://doaj.org/article/5bcc5203a9df4ca3a5d7188233c212fb
Autor:
Takaaki Sawada, Jun Kido, Keishin Sugawara, Shinichiro Yoshida, Shirou Matsumoto, Tomoyuki Shimazu, Yuki Matsushita, Takahito Inoue, Shinichi Hirose, Fumio Endo, Kimitoshi Nakamura
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 31, Iss , Pp 100850- (2022)
Gaucher disease (GD) is an autosomal recessive inborn metabolic disorder caused by a glucocerebrosidase (GCase) defect. GD is classified into three main types depending on accompanying neurological symptoms. Enzyme replacement therapy and substrate r
Externí odkaz:
https://doaj.org/article/8b268ceb9fbe409a863a9ad2cc28d5c3
Autor:
Jae‐Do Kang, Koichi Kajiwara, Yusuke Tosauchi, Eiji Sato, Takahito Inoue, Toshimi Kabeyasawa, Hitoshi Shiohara, Takuya Nagae, Toshikazu Kabeyasawa, Hiroshi Fukuyama, Tomohisa Mukai
Publikováno v:
Earthquake Engineering & Structural Dynamics. 52:1932-1955
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7d12fde9c221b55899e47546aa6b85b4
https://doi.org/10.1002/eqe.3854
https://doi.org/10.1002/eqe.3854
Autor:
Takaaki Sawada, Jun Kido, Shinichiro Yoshida, Keishin Sugawara, Ken Momosaki, Takahito Inoue, Go Tajima, Hirotake Sawada, Shirou Mastumoto, Fumio Endo, Shinichi Hirose, Kimitoshi Nakamura
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 22, Iss , Pp - (2020)
Newborn screening (NBS) for Fabry disease (FD) is the best way to detect FD early prior to presentation of symptoms and is currently implemented in Taiwan and several states such as Illinois, Missouri, and Tennessee in the United States of America. I
Externí odkaz:
https://doaj.org/article/83888c1f15a64980a61065ec7cb18971
Autor:
Jae‐Do Kang, Koichi Kajiwara, Yusuke Tosauchi, Eiji Sato, Takahito Inoue, Toshimi Kabeyasawa, Hitoshi Shiohara, Takuya Nagae, Toshikazu Kabeyasawa, Hiroshi Fukuyama, Tomohisa Mukai
Publikováno v:
Earthquake Engineering & Structural Dynamics.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::08f1004c6441f076f6fbd804a6464c6d
https://doi.org/10.1002/eqe.3909
https://doi.org/10.1002/eqe.3909
Publikováno v:
Asia-Pacific Journal of Sports Medicine, Arthroscopy, Rehabilitation and Technology, Vol 1, Iss 1, Pp 31-37 (2014)
No standard surgical procedure for medial patellofemoral ligament (MPFL) reconstruction exists. The purpose of this study was to evaluate the clinical effectiveness and limitation of the reconstructions of the MPFL in single patellar and femoral bone
Externí odkaz:
https://doaj.org/article/f12f107c1f90495991a8374a0191637a
Publikováno v:
Journal of Physical Therapy Science
[Purpose] Adults with cerebral palsy often use a cane as a walking aid because of their decreased gait ability. However, it is unclear whether this affects lower limb muscle activity during walking. The purpose of this study was to clarify the influe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a9449f20b8ad11afbad0b9132a74e6d
https://doi.org/10.1589/jpts.33.544
https://doi.org/10.1589/jpts.33.544
Autor:
Takahito Inoue, Hiroshi Ideguchi, Atsushi Ishii, Toshiyuki Yamamoto, Takako Fujita, Taichi Imaizumi, Shinichi Hirose, Yukiko Ihara, Hitomi Hayashi
Publikováno v:
Congenital Anomalies. 60:189-193
Coffin-Siris syndrome (CSS) is a congenital anomaly syndrome characterized by developmental delay, coarse facial features, and hypoplasia of the fifth digit's nail or phalanges. Herein, we report a case of the 8-year-old female patient who showed dev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ad09bf3ff084c3466a6f56af8de7182
https://doi.org/10.1111/cga.12383
https://doi.org/10.1111/cga.12383