Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Mitsukazu Mamada"'
Autor:
Koji Yokoyama, Mitsukazu Mamada
Publikováno v:
Case Reports in Pediatrics, Vol 2023 (2023)
Oseltamivir is a neuraminidase inhibitor used to treat acute influenza A or B in adult and pediatric patients. Adverse reactions are usually mild. Here, we report novel side effects associated with oseltamivir. The patient was an 11-year-old girl who
Externí odkaz:
https://doaj.org/article/850a149035c34be7bd0d93ff11070aba
Autor:
Tohru Yorifuji, Tatsutoshi Nakahata, Tsuyoshi Imai, Yukihiro Hasegawa, Yoshikazu Nishi, Seiichiro Shishido, Masahiko Kawai, Keiji Kurokawa, Mitsukazu Mamada
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 89:2905-2908
Mutations in the gene coding for hepatocyte nuclear factor-1β (HNF-1β) have been known to cause a form of maturity-onset diabetes of the young (MODY5), which is usually characterized by dominantly inherited adolescence-onset diabetes mellitus assoc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0a89613605113aef88c273bebb9353d
https://doi.org/10.1210/jc.2003-031828
https://doi.org/10.1210/jc.2003-031828
Publikováno v:
Clinical Endocrinology. 60:608-612
Summary objective For patients with GH and gonadotrophin deficiency, adult height and sexual maturation are important not only for their physical but also psychological status. GH therapy is usually initiated soon after diagnosis but the differences
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4194bd70b811b44c451e9f62a43ea73f
https://doi.org/10.1111/j.1365-2265.2004.02013.x
https://doi.org/10.1111/j.1365-2265.2004.02013.x
Autor:
Hiroto Egawa, Y. Kohno, Toru Yorifuji, Keiji Kurokawa, Tatsutoshi Nakahata, K. Tanaka, Mitsukazu Mamada, Masahiko Kawai, Yosuke Shigematsu
Publikováno v:
Journal of Inherited Metabolic Disease. 27:205-210
Three patients with the severe form of propionic acidaemia were treated with living-donor liver transplantation (LDLT). The procedure was successful for all patients and the incidence of metabolic decompensation was reduced dramatically even without
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d01d02035d22cda108bc900bd8f015bb
https://doi.org/10.1023/b:boli.0000028778.54210.13
https://doi.org/10.1023/b:boli.0000028778.54210.13
Autor:
Chutaro Yamanaka, Toru Momoi, Tatsutoshi Nakahata, Masahiko Kawai, Masayuki Kaji, Ayumi Uematsu, Junko Muroi, Tohru Yorifuji, Mitsukazu Mamada
Publikováno v:
American Journal of Medical Genetics. 111:134-139
The parental origin of the X chromosome of 45,X females has been the subject of many studies, and most of them have shown that the majority (60-80%) of the X chromosomes are maternal in origin. However, studies on the parental origin of normal X chro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e7d2b4849beadb1e691d8be5f90e395
https://doi.org/10.1002/ajmg.10506
https://doi.org/10.1002/ajmg.10506
Autor:
Tatsutoshi Nakahata, Toru Momoi, Masahiko Kawai, Keiji Kurokawa, Mitsukazu Mamada, Tohru Yorifuji, Junko Yorifuji
Publikováno v:
Human Genetics. 120:733-735
In order to test the hypothesis that polymorphisms of the Marfan syndrome gene (FBN1) might affect the stature (height) of normal individuals, we genotyped three exonic SNPs on 428 males, 219 with tall stature (2 SD) and 209 with normal stature (with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5232cd0673d332ad9d12189fd20cccf1
https://doi.org/10.1007/s00439-006-0263-5
https://doi.org/10.1007/s00439-006-0263-5
Autor:
Masahiko Kawai, Mitsukazu Mamada, Tohru Yorifuji, Tatsutoshi Nakahata, Toru Momoi, Keiji Kurokawa
Publikováno v:
Clinical Pediatric Endocrinology
FGFR3 (fibroblast growth factor receptor 3) is a gene responsible for the most common form of osteodysplasia, achondroplasia, which results in extreme short stature. An allelic disorder, hypochondroplasia, however, presents with a much milder phenoty
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93214e5eee793693c0e7713d812d303a
https://pubmed.ncbi.nlm.nih.gov/24790322
https://pubmed.ncbi.nlm.nih.gov/24790322
Autor:
Ichiro Yoshida, Masahiko Kawai, Yosuke Shigematsu, Tatsutoshi Nakahata, Junko Muroi, Fumio Endo, Tohru Yorifuji, Tomiko Kuhara, Hiroshi Mitsubuchi, Satoko Hirano, Mitsukazu Mamada, Keiji Kurokawa, Nobuo Sakura
Publikováno v:
Human genetics. 111(2)
Propionic acidemia [MIM 606054] is a form of organic acidemia caused by genetic deficiency of propionyl-CoA carboxylase (PCC) and characterized by attacks of severe metabolic acidemia and hyperammonemia beginning in the neonatal period or in early in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90f76502950bb8b0709d9a9b4ed2b665
https://pubmed.ncbi.nlm.nih.gov/12189489
https://pubmed.ncbi.nlm.nih.gov/12189489
Autor:
Mitsukazu, MAMADA
Publikováno v:
日赤医学 = The Japanese Red Cross Medical Journal. 66(1):163
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=jairo_______::5d4b9472f1ddc3bde8284bacb9378768
http://id.nii.ac.jp/1063/00005839/
http://id.nii.ac.jp/1063/00005839/
Autor:
Toru Momoi, Tohru Yorifuji, Junko Muroi, Ayumi Uematsu, Masayuki Kaji, Chutaro Yamanaka, Mitsukazu Mamada, Masahiko Kawai, Tatsutoshi Nakahata
Publikováno v:
Journal of Medical Genetics. 38:41e-41
Editor—Turner syndrome is one of the most common chromosomal abnormality syndromes affecting 1 in 2500 liveborn females. The syndrome is characterised by short stature, gonadal dysgenesis, congenital heart disease, renal anomalies, and a variety of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4c2e124d05eea65d62fee0784f83e41
https://doi.org/10.1136/jmg.38.11.e41
https://doi.org/10.1136/jmg.38.11.e41