Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Yoriko Endo"'
Autor:
Hideki Tahara, Hideki Okayama, Katsuji Inoue, Tetsu Ebara, Tomoaki Ohtsuka, Yoriko Endo, Yoon S. Shin, Minoru Okubo, Toshio Murase, Jistuo Higaki, Akiyoshi Ogimoto
Publikováno v:
Circulation Journal. 71:1653-1656
Left ventricular hypertrophy (LVH) is primarily or secondarily caused by a cardiovascular or systemic disease. The pattern of LVH is distinctive in hypertrophic or metabolic cardiomyopathy and differs from that seen in LVH caused by hypertension or a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52f9086e19dc6cc561828bd692e42b21
https://doi.org/10.1253/circj.71.1653
https://doi.org/10.1253/circj.71.1653
Autor:
Teodor Podskarbi, Yoshiko Aoyama, Asako Horinishi, Masato Odawara, Minoru Okubo, Matthias Vorgerd, Yoon S. Shin, Toshio Murase, Yoriko Endo, Tetsu Ebara
Publikováno v:
Journal of Human Genetics. 51:958-963
Glycogen storage disease type III (GSD III) is an autosomal recessive disorder characterized by excessive accumulation of abnormal glycogen in the liver and/or muscles and caused by deficiency in the glycogen debranching enzyme (AGL). Previous studie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea0ff05b9be16508fe5a9dc09d8b2d73
https://doi.org/10.1007/s10038-006-0045-x
https://doi.org/10.1007/s10038-006-0045-x
Autor:
Toshio Murase, Tetsu Ebara, Yoshiko Aoyama, Yoriko Endo, Minoru Okubo, Ekram Fateen, Asako Horinishi, Yoon S. Shin
Publikováno v:
Journal of Human Genetics. 50:538-542
Glycogen storage disease type IIIa (GSD IIIa) is an autosomal recessive disorder characterized by excessive accumulation of abnormal glycogen in the liver and muscles and caused by a deficiency in the glycogen debranching enzyme. The spectrum of AGL
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1078bf487670fe88ab5e6a698b74fe28
https://doi.org/10.1007/s10038-005-0291-3
https://doi.org/10.1007/s10038-005-0291-3
Autor:
Yoriko Endo, Yoshiko Aoyama, Minoru Okubo, Gülden Gökçay, Teodor Podskarbi, Yoon S. Shin, Toshio Murase, Tetsu Ebara, Mübeccel Demirkol, Isil Ozer
Publikováno v:
Pediatrics international : official journal of the Japan Pediatric Society. 52(1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::226add04e56c809af001dc5c2dba061e
https://pubmed.ncbi.nlm.nih.gov/20158661
https://pubmed.ncbi.nlm.nih.gov/20158661
Autor:
Tetsu Ebara, Teodor Podskarbi, Yoshiko Aoyama, Yoon S. Shin, Yoriko Endo, Minoru Okubo, Toshio Murase, Ekram Fateen, Mortada El Shabrawy
Background: Glycogen storage disease type III (GSD III) is caused by mutations in AGL which encodes for a single protein with two enzyme activities: oligo-1, 4-1, 4-glucantransferase (transferase) and amylo-1, 6-glucosidase. Activity of both enzymes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::174f73db2c496a4493c066c5d25bf00c
http://edoc.hu-berlin.de/18452/10589
http://edoc.hu-berlin.de/18452/10589
Autor:
Tetsu Ebara, Toshio Murase, Mieko Saito, Kohei Kaku, Minoru Okubo, Masaaki Eto, Asako Horinishi, Yoriko Endo
Publikováno v:
Molecular genetics and metabolism. 92(3)
Lipoprotein lipase (LPL) deficiency is a rare autosomal recessive inherited disorder, characterized by marked hypertriglyceridemia, eruptive xanthoma, hepatosplenomegaly, recurrent attacks of pancreatitis, and markedly low or absent LPL activity in p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88a094e89666abd24ea3549c57139bde
https://pubmed.ncbi.nlm.nih.gov/17706445
https://pubmed.ncbi.nlm.nih.gov/17706445
Autor:
Tetsu Ebara, Shouichi Yoshiike, Minoru Okubo, Yoriko Endo, Masatomi Tsuji, Susumu Taguchi, Toshio Murase
Publikováno v:
Clinica chimica acta; international journal of clinical chemistry. 386(1-2)
Background Familial lipoprotein lipase (LPL) deficiency is a rare autosomal recessive disorder caused by mutations in the LPL gene. Patients with LPL deficiency have chylomicronemia; however, whether they develop accelerated atherosclerosis remains u
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d49900dfb3166adf4de9614ccb69ae78
https://pubmed.ncbi.nlm.nih.gov/17854791
https://pubmed.ncbi.nlm.nih.gov/17854791