Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Shinichiro Arashima"'
Publikováno v:
Molecular Genetics and Metabolism. 64:152-154
The only known Japanese child with biotinidase deficiency was identified by newborn screening in Japan. He has 10.8% of mean normal serum biotinyl-hydrolase activity and trace biotinyl-transferase activity. The mutation results in 16% of normal cross
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f758ad0315b4c0b8caa31489ab5077a1
https://doi.org/10.1006/mgme.1998.2706
https://doi.org/10.1006/mgme.1998.2706
Publikováno v:
Human Mutation. 11:S320-S322
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fbc7499f189b5815d610ceb5ad21bb86
https://doi.org/10.1002/humu.13801101100
https://doi.org/10.1002/humu.13801101100
Autor:
Yoshinobu Hata, Masatomo Ikeda, Shinichiro Arashima, Seiichi Yamaji, Koji Nakamura, Katsuhiko Tanaka, Junichi Uchino
Publikováno v:
AUDIOLOGY JAPAN. 20:713-717
Rowley's syndrome is characterized by 1) lateral cervical fistulae 2) preauricular fistulae and 3) mixed deafness. We found 6 cases of this syndrome in one family consisting of 25 individuals in 4 generations.Audiological evaluations of 5 cases demon
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3e64bca5e5aa462508055a12bc3f3036
https://doi.org/10.4295/audiology.20.713
https://doi.org/10.4295/audiology.20.713
Autor:
Ichiro Matsuda, Mutsuo Ishikawa, Kazuhiro Abe, Shinichiro Arashima, Yogo Oka, Takashi Mitsuyama
Publikováno v:
Pediatric Research. 10:669-676
Extract: The skin, brain, lung, liver, and kidney from a 20-week-old fetus who was diagnosed as having fetal I-cell disease by amniocentesis at 14 weeks of gestation were examined by light and electron microscopy. In addition, cultured fibroblasts fr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23a7f16180ac75db943bc6ec5fd30e64
https://doi.org/10.1203/00006450-197607000-00008
https://doi.org/10.1203/00006450-197607000-00008
Autor:
Osamu Nose, Shinichiro Arashima, Hitoshi Taziri, Shogo Nagano, Tasuke Konno, Fumiko Itahashi, Hiroomi Kashii, Hiroshi Kai, Akio Kobayashi, Michio Koike, Hideo Kato, Yusaku Tazawa, Yuichiro Yamashiro, Keiichiro Sumiyama
Publikováno v:
Pediatrics International. 26:82-90
The application of the PFD test, a newly developed technique for testing exocrine pancreatic function, was studied in infants and children. 1. This test is simple to perform and noninvasive so that it can be easily used in infants and children. 2. Th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ac45cc83e2ee79a3f6963af225102cb
https://doi.org/10.1111/j.1442-200x.1984.tb00603.x
https://doi.org/10.1111/j.1442-200x.1984.tb00603.x
Publikováno v:
Neuropediatrics. 6:202-209
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::021400f7ad9bc960525522e7395b4d4b
https://doi.org/10.1055/s-0028-1091663
https://doi.org/10.1055/s-0028-1091663
Publikováno v:
European Journal of Pediatrics. 125:191-195
Alanine (500 mg/kg body weight) was given orally to 27 healthy full term newborn infants, and the changes in blood glucose, pyruvate, lactate, alanine, glucagon and insulin were determined. Significant increments in blood glucose were found in 15 inf
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cce7f32a1afa1c7749830b10b62398c0
https://doi.org/10.1007/bf00480596
https://doi.org/10.1007/bf00480596
Autor:
Yasuhiko Kaneko, Shinichiro Arashima, Tatsuo Ikeuchi, Mutsuo Ishikawa, Yogo Oka, Takashi Mitsuyama, Ichiro Matsuda
Publikováno v:
Humangenetik. 30:69-73
A pregnancy from a family in risk of I-cell disease was monitored. The fetus was diagnosed as having I-cell disease based on the findings that (1) lysosomal enzyme activities except for acid phosphatase and alpha glucosidase were clearly elevated in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5dfc5d2a23564987a9db6437679dd709
https://doi.org/10.1007/bf00273633
https://doi.org/10.1007/bf00273633
Autor:
Shinichiro Arashima, Shougo Nagano, T Takenouchi, Masao Kawaguchi, Kazuko Koshi, Miki Aizawa, Kyoji Nakamura, Shunichi Sagezima
Publikováno v:
Pathology International. 36:1727-1735
An autopsy case of cerebro-hepato-renal syndrome of Zellweger, which occurred in a 14-year-old Japanese girl, is reported. The autopsy revealed widely distributed cystic changes in addition to renal blastema of both kidneys, and the liver was cirrhot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5e6aeec2bb5271a7e4db1267b53b698e
https://doi.org/10.1111/j.1440-1827.1986.tb02236.x
https://doi.org/10.1111/j.1440-1827.1986.tb02236.x
Autor:
YOGO OKA, ICHIRO MATSUDA, SHINICHIRO ARASHIMA, MICHIYA ANAKURA, TAKASHI MITSUYAMA, ICHIMEI NAGAMATSU
Publikováno v:
The Tohoku Journal of Experimental Medicine. 118:131-135
A 5-year old boy with intermittent sopor, severe vomiting and ataxia since 2 1/2 years old was described. During attack period the patient showed elevation of blood pyruvate and alanine and also cerebrospinal-fluid pyruvate, whereas during the time f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01e4272dbff1c0decb6ff06a4a591576
https://doi.org/10.1620/tjem.118.131
https://doi.org/10.1620/tjem.118.131