| 1176C polymorphism in Japanese patients with glycogen storage disease type 1a M Okubo, A Horinishi, T Murase, K Hamada Human genetics 104, 193-193, 1999 | 10 | 1999 |
| A 60-y-old chylomicronemia patient homozygous for missense mutation (G188E) in the lipoprotein lipase gene showed no accelerated atherosclerosis T Ebara, Y Endo, S Yoshiike, M Tsuji, S Taguchi, T Murase, M Okubo Clinica chimica acta 386 (1-2), 100-104, 2007 | 23 | 2007 |
| A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series I Rousseau-Nepton, M Okubo, R Grabs, J Mitchell, C Polychronakos, ... CMAJ 187 (2), E68-E73, 2015 | 30 | 2015 |
| A G+ 1 to C mutation in a donor splice site of intron 2 in the apolipoprotein (apo) C-II gene in a patient with apo C-II deficiency: a possible interaction between apo C-II … M Okubo, Y Hasegawa, Y Aoyama, T Murase Atherosclerosis 130 (1-2), 153-160, 1997 | 27 | 1997 |
| A Japanese patient with cardiomyopathy caused by a novel mutation R285X in the AGL gene A Ogimoto, M Okubo, H Okayama, YS Shin, Y Endo, T Ebara, K Inoue, ... Circulation Journal 71 (10), 1653-1656, 2007 | 14 | 2007 |
| A Japanese patient with lipoprotein lipase deficiency homozygous for the Gly188Glu mutation prevalent worldwide T Yoshida, T Gotoda, M Okubo, Y Iizuka, S Ishibashi, T Kojima, ... Journal of atherosclerosis and thrombosis 7 (1), 45-49, 2000 | 11 | 2000 |
| A novel APOA5 splicing mutation IVS2+ 1g> a in a Japanese chylomicronemia patient M Okubo, M Ishihara, T Iwasaki, T Ebara, Y Aoyama, T Murase, H Hattori Atherosclerosis 207 (1), 24-25, 2009 | 20 | 2009 |
| A novel apolipoprotein E2 variant, E2Toranomon (Q187E), identified in a type III hyperlipoproteinemia patient with coronary atherosclerosis M Okubo, Y Aoyama, K Harada, M Fukawa, T Tsukada, H Mokuno, ... Atherosclerosis 140 (1), 187-190, 1998 | 12 | 1998 |
| A novel complex deletion–insertion mutation mediated by Alu repetitive elements leads to lipoprotein lipase deficiency M Okubo, A Horinishi, M Saito, T Ebara, Y Endo, K Kaku, T Murase, M Eto Molecular genetics and metabolism 92 (3), 229-233, 2007 | 56 | 2007 |
| A novel dominant-negative mutation of the hepatocyte nuclear factor-1α gene in Japanese early-onset type 2 diabetes S Tanaka, T Kobayashi, H Tomura, M Okubo, K Nakanishi, J Takeda, ... Hormone and Metabolic Research 32 (09), 373-377, 2000 | 12 | 2000 |
| A novel donor splice site mutation in the glycogen debranching enzyme gene is associated with glycogen storage disease type III M Okubo, Y Aoyama, T Murase Biochemical and biophysical research communications 224 (2), 493-499, 1996 | 40 | 1996 |
| A novel missense mutation (Asn5→Ile) in lecithin: cholesterol acyltransferase (LCAT) gene in a Japanese patient with LCAT deficiency M Okubo, Y Aoyama, H Shio, JJ Albers, T Murase International Journal of Clinical and Laboratory Research 26, 250-254, 1996 | 7 | 1996 |
| A novel point mutation in an acceptor splice site of intron 32 (IVS32 A–12→G) but no exon 3 mutations in the glycogen debranching enzyme gene in a … M Okubo, A Horinishi, N Nakamura, Y Aoyama, M Hashimoto, Y Endo, ... Human genetics 102, 1-5, 1998 | 31 | 1998 |
| A patient with apolipoprotein E2 variant (Q187E) without lipoprotein glomerulopathy M Hayakawa, M Okubo, H Katori, K Nagahama, T Murase, T Kobayashi, ... American Journal of Kidney Diseases 39 (3), e15. 1-e15. 4, 2002 | 10 | 2002 |
| A rapid electrophoretic method for the detection of serum Lp (a) lipoprotein K Kawakami, A Tsukada, M Okubo, T Tsukada, T Kobayashi, N Yamada, ... Clinica chimica acta 185 (2), 147-155, 1989 | 34 | 1989 |
| Aggravation of diabetes, and incompletely deficient insulin secretion in a case with type 1 diabetes‐resistant human leukocyte antigen DRB 1* 15: 02 treated with nivolumab K Matsumura, K Nagasawa, Y Oshima, S Kikuno, K Hayashi, A Nishimura, ... Journal of Diabetes Investigation 9 (2), 438-441, 2018 | 32 | 2018 |
| AGL 遺伝子の新しい変異 R285X により生じた心筋症の日本人患者 A OGIMOTO, M OKUBO, H OKAYAMA, YS SHIN, Y ENDO, T EBARA, ... Circulation Journal 71 (10), 1653-1656, 2007 | | 2007 |
| Apnea hypopnea index during rapid eye movement sleep with diabetic retinopathy in patients with type 2 diabetes A Nishimura, T Kasai, S Kikuno, K Nagasawa, M Okubo, K Narui, Y Mori The Journal of Clinical Endocrinology & Metabolism 104 (6), 2075-2082, 2019 | 20 | 2019 |
| Apolipoprotein (a) M Okubo Nihon rinsho. Japanese Journal of Clinical Medicine 52 (12), 3133-3138, 1994 | | 1994 |
| Apolipoprotein C-II Tuzla: a novel large deletion in APOC2 caused by Alu-Alu homologous recombination in an infant with apolipoprotein C-II deficiency M Okubo, A Toromanovic, T Ebara, T Murase Clinica chimica acta 438, 148-153, 2015 | 23 | 2015 |
