Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Tetsu Ebara"'
Publikováno v:
Journal of clinical lipidology. 11(6)
Background Severe hypertriglyceridemia (>1000 mg/dL) has a variety of causes and frequently leads to life-threating acute pancreatitis. However, the origins of this disorder are unclear for many patients. Objective We aimed to characterize the causes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7759fca7645438064b8f8085ca6233b3
https://pubmed.ncbi.nlm.nih.gov/28958672
https://pubmed.ncbi.nlm.nih.gov/28958672
Publikováno v:
Clinica Chimica Acta. 436:188-192
Background The etiology of hypertriglyceridemia is complex and one of the common variants in affecting plasma lipid levels is apolipoprotein (apo) E isoform. Scores of apo E variants have been reported, including apo E7. However, a clinical lipid phe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::067e5e19b4626b0a4d3202da48285b48
https://doi.org/10.1016/j.cca.2014.06.001
https://doi.org/10.1016/j.cca.2014.06.001
Publikováno v:
Annals of Clinical Biochemistry: International Journal of Laboratory Medicine. 51:294-297
Background Familial lipoprotein lipase (LPL) deficiency is a very rare autosomal recessive disorder characterized by marked elevation of plasma triglyceride concentrations. Since 1989, a variety of mutations have been reported in affected patients. S
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f1662cd01cc63747d5d15d7277e3b08
https://doi.org/10.1177/0004563213498711
https://doi.org/10.1177/0004563213498711
Autor:
Masanori Nakamura, Satoshi Kimura, A. Minemura, Emi Fukuoka, A. Takuma, H. Yamaguchi, Seiji Fukuoka, Tetsu Ebara, K. Suzuki, Takashi Soga
Publikováno v:
International Journal of Infectious Diseases. 45
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::604124278abadcead922d4ef49cc94fe
Autor:
Mübeccel Demirkol, Yoshiko Aoyama, Teodor Podskarbi, Tetsu Ebara, Minoru Okubo, Isil Ozer, Yoon S. Shin, Toshio Murase, Gülden Gökçay
Publikováno v:
Journal of Human Genetics. 54:681-686
Glycogen storage disease type III (GSD III) is an autosomal recessive disorder caused by deficiency in the glycogen debranching enzyme (gene symbol: AGL) with two enzyme activities: transferase and glucosidase. A missense mutation causing isolated gl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b468bc1a6c0b6363b9af74d2bee474f3
https://doi.org/10.1038/jhg.2009.100
https://doi.org/10.1038/jhg.2009.100
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
Publikováno v:
Clinica chimica acta; international journal of clinical chemistry. 438
Backgrounds Familial apolipoprotein (apo) C-II deficiency is a very rare inherited disorder characterized by chylomicronemia. Since the discovery in 1978, reports on apo C-II deficient patients have been limited and only 13 different mutations in APO
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f3c248a87a9f73da22816f8d6f247de
https://pubmed.ncbi.nlm.nih.gov/25172036
https://pubmed.ncbi.nlm.nih.gov/25172036
Autor:
Toshihiro Takahashi, Tetsu Ebara, Mitsuru Adachi, Hiroto Tajima, Tsutomu Hirano, Shigenobu Saito
Publikováno v:
American Journal of Physiology-Endocrinology and Metabolism. 281:E665-E669
Apoprotein (apo) C-III plays an important role in the development of hypertriglyceridemia by inhibiting triglyceride (TG) removal. However, the effect of apo C-III on TG production remains unclear. We measured TG secretion rate (TGSR) in apo C-III ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09a3fb4631957ff01b7165ee9d9efdcc
https://doi.org/10.1152/ajpendo.2001.281.4.e665
https://doi.org/10.1152/ajpendo.2001.281.4.e665