List of selected publications

2015年

Okubo M, Toromanovic A, et al. Apolipoprotein C-II Tuzla: a novel large deletion in APOC2 caused by Alu-Alu homologous recombination in an infant with apolipoprotein C-II deficiency. Clin Chim Acta, 438: 148-153, 2015.

Okubo M, Kalkan Ucar S, et al. Molecular and clinical delineation of 12 patients with glycogen storage disease type III in Western Turkey. Clin Chim Acta, 439: 162-167, 2015.

Rousseau-Nepton I, Okubo M, Grabs R, FORGE Canada Consortium, Mitchell J, Polychronakos C, Rodd C. A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series. CMAJ, 187: E68-E73, 2015.

2011年

Okubo M, Spengos K, et al. Phenotypical variability in glycogen storage disease type III with a recurrent AGL mutation c.750-753delAGAC. Muscle Nerve, 43:451, 2011.

2009年

Aoyama Y, Ozer I, Demirkol M, et al. Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations. J Hum Genet 54: 681-686, 2009.

Okubo M, et al. A novel APOA5 splicing mutation IVS2+1g>a in a Japanese chylomicronemia patient. Atherosclerosis, 207: 24-25, 2009.

Cheng A, Zhang M, Okubo M, Omichi K, Saltie AR. Distinct mutations in the glycogen debranching enzyme found in Glycogen Storage Disease Type III lead to impairment in diverse cellular functions. Hum Mol Genet 18: 2045-2052, 2009.

2007年

Okubo M, et al. A novel complex deletion-insertion mutation mediated by Alu repetitive elements leads to lipoprotein lipase deficiency. Mol Genet Metab 92: 229-233, 2007.

2002年

Okubo M, et al. Seven novel sequence variants in the human low density lipoprotein receptor related protein 5 (LRP5) gene. Hum Mutat 19:186, 2002.

2000年

Okubo M, et al. Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan. Hum Genet 106: 108-115, 2000.

List of publications as Mentor

2014年

Arai M, et al. Hypertriglyceridemia and pancreatitis in a patient with apolipoprotein E7 (p.[E244K; E245K])/ E4. Clin Chim Acta, 436: 188-192, 2014.

2013年

Kondo Y, et al. Liver cirrhosis treated by living donor liver transplantation in a patient with AGL mutation c.2607-2610delATTC and c.1672dupA. Clin Chim Acta 424:19-21, 2013.

2012年

Yoshida N, et al. Development of insulin allergy after bone marrow transplantation. Diabet Med, 29:1339-1341, 2012.

2010年

Aoyama Y, et al. Novel AGL mutation in a Turkish patient with glycogen storage disease type IIIa. Pediatr Int 52: 145-147, 2010.

2009年

Endo Y, et al. Egyptian glycogen storage disease type III-Identification of six novel AGL mutations, including a large 1.5kb deletion and a missense mutation p.L620P with subtype IIId. Clin Chem Lab Med 47: 1233-1238, 2009.

2002年

Horinishi A, et al. Mutational and haplotype analysis of AGL in patients with glycogen storage disease type III. J Hum Genet 47:55-59, 2002.

Hayakawa M, et al. A patient with apolipoprotein E2 variant (Q187E) without lipoprotein glomerulopathy. Am J Kidney Dis 39:E15, 2002.

2000年

Oki Y, et al. Diabetes mellitus secondary to glycogen storage disease type III. Diabetic Med 17: 810-812, 2000.