Zobrazeno 1 - 10
of 88
pro vyhledávání: '"Hideo, Sasai"'
Autor:
Hideki Matsumoto, Hideo Sasai, Norio Kawamoto, Masato Katsuyama, Makoto Minamiyama, Satoshi Kuru, Toshiyuki Fukao, Hidenori Ohnishi, the SMON Research Group Members
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 6, Pp n/a-n/a (2024)
Abstract Background Subacute myelo‐optico‐neuropathy (SMON) is a neurological disorder associated with the administration of clioquinol, particularly at very high doses. Although clioquinol has been used worldwide, there was an outbreak of SMON i
Externí odkaz:
https://doaj.org/article/1cc8806176c84084a12e00ffc5038dc4
Autor:
Go Tajima, Junko Aisaki, Keiichi Hara, Miyuki Tsumura, Reiko Kagawa, Fumiaki Sakura, Hideo Sasai, Miori Yuasa, Yosuke Shigematsu, Satoshi Okada
Publikováno v:
International Journal of Neonatal Screening, Vol 10, Iss 1, p 15 (2024)
Very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a long-chain fatty acid oxidation disorder that manifests as either a severe phenotype associated with cardiomyopathy, a hypoglycemic phenotype, or a myopathic phenotype. As the hypoglycemi
Externí odkaz:
https://doaj.org/article/fa06d5f7a6e240b187c79fd0363573e9
Autor:
Go Tajima, Keiichi Hara, Miyuki Tsumura, Reiko Kagawa, Fumiaki Sakura, Hideo Sasai, Miori Yuasa, Yosuke Shigematsu, Satoshi Okada
Publikováno v:
International Journal of Neonatal Screening, Vol 9, Iss 4, p 62 (2023)
Carnitine palmitoyltransferase (CPT) II deficiency is a long-chain fatty acid oxidation disorder. It manifests as (1) a lethal neonatal form, (2) a hypoglycemic form, or (3) a myopathic form. The second form can cause sudden infant death and is more
Externí odkaz:
https://doaj.org/article/e55e3a9b95ee4057b002d6fe371edfd1
Autor:
Jun Kido, Hiroshi Mitsubuchi, Takehisa Watanabe, Keishin Sugawara, Hideo Sasai, Toshiyuki Fukao, Kimitoshi Nakamura
Publikováno v:
Human Genome Variation, Vol 8, Iss 1, Pp 1-6 (2021)
Glycogen storage disease type IX (GSD IX), the most common form of GSD, is caused by a defect in phosphorylase kinase (PhK). We describe the case of a female patient with GSD IXc harboring a homozygous mutation in PHKG2 (NM_000294.3; PHKG2 (c.280_282
Externí odkaz:
https://doaj.org/article/d64176232cbc4801ae1c3344a570e6f4
Autor:
Nagie Tozaki, Chisato Tawada, Hirofumi Niwa, Yoko Mizutani, En Shu, Aki Kawase, Yuki Miwa, Hidenori Ohnishi, Hideo Sasai, Keisuke Miyako, Junichi Hosokawa, Ayaka Kato, Kazuhiro Kobayashi, Tatsuhiko Miyazaki, Yohei Shirakami, Masahito Shimizu, Hiroaki Iwata
Publikováno v:
Frontiers in Medicine, Vol 9 (2022)
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome has recently been described as an autoinflammatory disease associated with severe adult-onset inflammatory manifestations. The various clinical manifestations include recurrent
Externí odkaz:
https://doaj.org/article/d45633eee96a4d5d81924831c388d694
Publikováno v:
Human Genome Variation, Vol 9, Iss 1, Pp 1-3 (2022)
Abstract Medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency is an autosomal recessive disease caused by biallelic pathogenic ACADM variants. We report a case of an asymptomatic Japanese girl with MCAD deficiency caused by compound heterozyg
Externí odkaz:
https://doaj.org/article/b69016dfc72140cbba16d2481a825ad5
Autor:
Saho Tochibora, Tomohiro Hori, Mai Mori, Hideki Matsumoto, Hiroki Otsuka, Hideo Sasai, Yuko Ito, Yukiko Kasahara, Norio Kawamoto, Hidenori Ohnishi
Publikováno v:
Clinical Case Reports, Vol 10, Iss 7, Pp n/a-n/a (2022)
Abstract This report illustrates a case of central hypothyroidism in a newborn immediately after birth caused by maternal Graves' disease. Infants from mothers with Graves' disease require careful examination without waiting for neonatal screening re
Externí odkaz:
https://doaj.org/article/57b602b3758e43e99dcbbd7907678025
Autor:
Hideki Matsumoto, Hideo Sasai, Norio Kawamoto, Masato Katsuyama, Makoto Minamiyama, Satoshi Kuru, Toshiyuki Fukao, Hidenori Ohnishi, SMON research group members
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 1, Pp n/a-n/a (2022)
Abstract Background Subacute myelo‐optico‐neuropathy (SMON) is a severe neurological disorder associated with clioquinol administration, which frequently occurred in Japan during the 1950s and 1960s. The unique genetic background of the Japanese
Externí odkaz:
https://doaj.org/article/a9021fb27c00426580e01b32f6329e91
Autor:
Yasuhiko Ago, Hideo Sugie, Tokiko Fukuda, Hiroki Otsuka, Hideo Sasai, Mina Nakama, Elsayed Abdelkreem, Toshiyuki Fukao
Publikováno v:
JIMD Reports, Vol 48, Iss 1, Pp 15-18 (2019)
Abstract We describe the case of a 4‐year‐old boy who suffered from frequent ketotic hypoglycemia (KH) but did not have hepatomegaly or elevated liver enzyme levels. However, the patient was found to have a rare variant in the PHKA2 gene. To dete
Externí odkaz:
https://doaj.org/article/12f8ec4428a547d897c7fdbd0e46676c
Autor:
Tomoko Lee, Yuichi Takami, Kenji Yamada, Hironori Kobayashi, Yuki Hasegawa, Hideo Sasai, Hiroki Otsuka, Yasuhiro Takeshima, Toshiyuki Fukao
Publikováno v:
JIMD Reports, Vol 48, Iss 1, Pp 19-25 (2019)
Abstract Mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency (mHS deficiency) is a rare autosomal recessive inborn error of ketogenesis caused by a mutation in the HMGCS2 gene, which is characterized by non‐(hypo)‐ketotic hyp
Externí odkaz:
https://doaj.org/article/e4ee7a8d609845fc96c932e7c13ea715