Zobrazeno 1 - 10
of 111
pro vyhledávání: '"Jun Kido"'
Publikováno v:
Inquiry: The Journal of Health Care Organization, Provision, and Financing, Vol 61 (2024)
A series of 3 direct-type earthquakes with magnitude ≥6 occurred in the Kumamoto Prefecture, located in the western area of Japan, between April 14 and 16, 2016. Children with food allergies (FA) had difficulty procuring allergen-free meals during
Externí odkaz:
https://doaj.org/article/14af3829cda94b10bc3ac3c4812365de
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
Autor:
Jun Kido, Kimiyasu Egami, Yohei Misumi, Keishin Sugawara, Naomi Tsuchida, Naomichi Matsumoto, Mitsuharu Ueda, Kimitoshi Nakamura
Publikováno v:
Human Genome Variation, Vol 10, Iss 1, Pp 1-4 (2023)
Abstract Kelch-like (KLHL) 15, localized on chromosome Xp22.11, was recently identified as an X-linked intellectual disability gene. Herein, we report a case of a male patient with a novel nonsense variant, c.736 C > T p.(Arg246*), in KLHL15, who pre
Externí odkaz:
https://doaj.org/article/4eb6a964b9ee481f820ff003b401aa8b
Autor:
Yusuke Noda, Jun Kido, Yohei Misumi, Keishin Sugawara, Sachiko Ohori, Atsushi Fujita, Naomichi Matsumoto, Mitsuharu Ueda, Kimitoshi Nakamura
Publikováno v:
Clinical Case Reports, Vol 11, Iss 9, Pp n/a-n/a (2023)
Key Clinical Message This case report presents a child with PURA‐related neurodevelopmental disorder, caused by the heterozygous pathogenic variant c.175C>T (p.Gln59*). The clinical symptoms included microcephaly, brachygnathia, central and periphe
Externí odkaz:
https://doaj.org/article/8abc520195204c1a86ee0f53dc0c5cae
Autor:
Takaaki Sawada, Jun Kido, Yukako Yae, Kotaro Yuge, Keiko Nomura, Kentaro Okada, Natsumi Fujiyama, Shiro Ozasa, Kimitoshi Nakamura
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 35, Iss , Pp 100973- (2023)
Introduction: Spinal muscular atrophy (SMA) is a neuromuscular disease characterized by muscle atrophy and progressive muscle weakness. Insurance-approved treatments in Japan include antisense oligonucleotide therapy, gene therapy, and small molecule
Externí odkaz:
https://doaj.org/article/6468af53f2464cbba836b84838209dcf
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Lysosomal storage diseases (LSDs) are a group of metabolic inborn errors caused by defective enzymes in the lysosome, resulting in the accumulation of undegraded substrates. LSDs are progressive diseases that exhibit variable rates of progression dep
Externí odkaz:
https://doaj.org/article/aa7d1295dad3414a818f91e67976f78b
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:
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
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Ornithine transcarbamylase deficiency (OTCD) is an X-linked disorder. Several male patients with OTCD suffer from severe hyperammonemic crisis in the neonatal period, whereas others develop late-onset manifestations, including hyperammonemic coma. Fe
Externí odkaz:
https://doaj.org/article/3ee194bc3f68457888cdccb4cfd04a3f
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 32, Iss , Pp 100892- (2022)
Hereditary tyrosinemia type 1 (HT1) is an autosomal recessive disorder caused by a defect in fumarylacetoacetate hydroxylase (FAH) encoded by the FAH gene. Patients with HT1 disorder present with increased blood tyrosine, succinyl acetoacetate, and s
Externí odkaz:
https://doaj.org/article/3d0309c67fa8495794df99b99e3144b0