Zobrazeno 1 - 10
of 38
pro vyhledávání: '"Ken Momosaki"'
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:
Shouichirou Kusunoki, Jun Kido, Ken Momosaki, Takaaki Sawada, Tomoko Kashiki, Shirou Matsumoto, Kimitoshi Nakamura
Publikováno v:
Case Reports in Neurology, Vol 12, Iss 3, Pp 299-306 (2020)
Alternating hemiplegia of childhood (AHC) (MIM 104290) is characterized by transient repeated attacks of paresis on either or both sides of the body, oculomotor and autonomic abnormalities, movement disorders, and cognitive impairment. Preventing par
Externí odkaz:
https://doaj.org/article/4ba39fbc37914b10b98b37a1d7e77a1c
Autor:
Shinichiro Yoshida, Jun Kido, Takaaki Sawada, Ken Momosaki, Keishin Sugawara, Shirou Matsumoto, Fumio Endo, Kimitoshi Nakamura
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
Abstract Background Fabry disease (FD) is a X-linked inherited disorder caused by mutations in the GLA gene, which results in the deficiency of α-galactosidase A (α-Gal A). This leads to the progressive accumulation of metabolites, which can cause
Externí odkaz:
https://doaj.org/article/8062074bac414e27a9ff64361383c3cc
Autor:
Ken Momosaki, Jun Kido, Shiro Matsumoto, Atsuo Taniguchi, Tomoyuki Akiyama, Takaaki Sawada, Shiro Ozasa, Kimitoshi Nakamura
Publikováno v:
Case Reports in Neurology, Vol 11, Iss 3, Pp 256-264 (2019)
Lesch-Nyhan disease (LND) is an X-linked recessive disorder caused by a deficiency in hypoxanthine-guanine phosphoribosyl transferase. Patients with LND experience involuntary movements, including dystonia, choreoathetosis, opisthotonos, ballismus, a
Externí odkaz:
https://doaj.org/article/becb7fd719cb4fd69965bee3fd21cfed
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:
Keiko Nomura, Shiro Ozasa, Kei Murayama, Tomoko Tsuruoka, Atsuko Imai-Okazaki, Yasutoshi Koga, Kimitoshi Nakamura, Tomoko Kashiki, Jun Kido, Ken Momosaki, Shouichirou Kusunoki
Publikováno v:
Brain and Development. 44:56-62
Introduction Autosomal dominant mitochondrial DNA depletion syndrome (MTDPS-12A) is characterized by severe hypotonia from birth due to a mutation in the adenine nucleotide translocator 1 (ANT1). Case report A 4-year-old female patient diagnosed with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5c73d209b4d8a48ecc435ac9a9ac61bf
https://doi.org/10.1016/j.braindev.2021.08.005
https://doi.org/10.1016/j.braindev.2021.08.005
Autor:
Ken Momosaki1 momosaki@kuh.kumamoto-u.ac.jp, Jun Kido1 kidojun@kuh.kumamoto-u.ac.jp, Shirou Matsumoto1 s-pediat@gpo.kumamoto-u.ac.jp, Shiro Ozasa1 ozasas@kumamoto-u.ac.jp, Kimitoshi Nakamura1 nakamura@kumamoot-u.ac.jp
Publikováno v:
Pediatric Reports. 2020, Vol. 12 Issue 3, p72-76. 5p.
Autor:
Kohei Kano, Naoki Nakagawa, Kimitoshi Nakamura, Takayuki Katayama, Naoyuki Hasebe, Tsukasa Saito, Takaaki Sawada, Jun Sawada, Ken Momosaki
Publikováno v:
Internal Medicine
Objective Fabry disease (FD) is a hereditary lysosomal storage disease that has been highlighted as a possible etiology of stroke at a young age and presents with other various neurological symptoms. Since FD is rare, limited information is currently
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9aa71ab545a6cf1b4ec9ec3d02d35b4d
https://doi.org/10.2169/internalmedicine.6420-20
https://doi.org/10.2169/internalmedicine.6420-20
Publikováno v:
Pediatric Reports
Smith–Magenis syndrome (SMS) is a complex disorder characterized by variable mental retardation, sleep disturbances, craniofacial and skeletal anomalies, self-injurious and attention-seeking behaviors, and speech and motor delays. The case of a 14-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86a383df4c6d4892f65727f2a230f536
https://doi.org/10.3390/pediatric12030018
https://doi.org/10.3390/pediatric12030018
Autor:
Takaaki Sawada, Kimitoshi Nakamura, Tomoko Kashiki, Ken Momosaki, Shirou Matsumoto, Shouichirou Kusunoki, Jun Kido
Publikováno v:
Case Reports in Neurology
Case Reports in Neurology, Vol 12, Iss 3, Pp 299-306 (2020)
Case Reports in Neurology, Vol 12, Iss 3, Pp 299-306 (2020)
Alternating hemiplegia of childhood (AHC) (MIM 104290) is characterized by transient repeated attacks of paresis on either or both sides of the body, oculomotor and autonomic abnormalities, movement disorders, and cognitive impairment. Preventing par
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee5204014bc9d9147dac25afe2f01aaa
https://doi.org/10.1159/000509287
https://doi.org/10.1159/000509287