Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Yasuo Gotoda"'
Publikováno v:
The American Journal of Human Genetics. 63:1015-1024
alpha-Mannosidosis is an autosomal recessive lysosomal-storage disorder caused by a deficiency of lysosomal alpha-mannosidase activity. This disease shows a wide range of clinical phenotypes, from a severe, infantile form (type I), which is fatal at
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5dd1d72a19dab605fb3fdf910508cc3b
https://doi.org/10.1086/302048
https://doi.org/10.1086/302048
Autor:
Hajimu Miyake, Yasuo Gotoda, Junichi Nagata, Koichi Sato, Kenjiro Masuda, Ai Mihara, Junko Miyagi
Publikováno v:
Nihon Naika Gakkai zasshi. The Journal of the Japanese Society of Internal Medicine. 93(11)
患者は65歳,女性.嗄声・嚥下障害で発症し,順次脳神経症状が上行拡大した後,意識障害を呈した. Gd造影頭部MRIで著明に肥厚した脳硬膜を認め,硬膜生検より肥厚性硬膜炎と診断した.ステロ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a05e6753340095013ed18b6214dd8a07
https://pubmed.ncbi.nlm.nih.gov/15624478
https://pubmed.ncbi.nlm.nih.gov/15624478
Autor:
Masataka Hayashi, Yasuo Gotoda, R Kondo, Toshio Matsumoto, Yoshihiko Nishida, Hisaomi Kawai, Shoji Tsuji, Hiroshi Kondo, Nobuaki Wakamatsu
OBJECTIVES Mutational analysis of the sterol 27-hydroxylase ( CYP27 ) gene was performed on three patients from two Japanese families who had cerebrotendinous xanthomatosis (CTX) associated with parkinsonism. METHODS Clinical evaluations, brain MRI s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ead9e87dc81e6aed36aa23886a5a5918
https://europepmc.org/articles/PMC1736478/
https://europepmc.org/articles/PMC1736478/
Publikováno v:
Gene. 198(1-2)
Genomic clones of human MANB gene encoding the lysosomal enzyme, alpha-mannosidase, have been isolated, sequenced and analyzed. The human MANB gene spans approximately 22 kb and consists of 24 exons. The 5' flanking region of the gene shows a high G+
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96103dbcfbbc1b5a0879403c580b473c
https://pubmed.ncbi.nlm.nih.gov/9370301
https://pubmed.ncbi.nlm.nih.gov/9370301