Okubo M - Search Results

1

Novel AGL mutation in a Turkish patient with glycogen storage disease type IIIa.

Aoyama Y, Endo Y, Ebara T, Murase T, Shin YS, Podskarbi T, Ozer I, Demirkol M, Gökçay G, Okubo M. Aoyama Y, et al. Among authors: okubo m. Pediatr Int. 2010 Feb;52(1):145-7. doi: 10.1111/j.1442-200X.2009.02943.x. Pediatr Int. 2010. PMID: 20158661 No abstract available.

2

Molecular characterization of Egyptian patients with glycogen storage disease type IIIa.

Endo Y, Fateen E, Aoyama Y, Horinishi A, Ebara T, Murase T, Shin YS, Okubo M. Endo Y, et al. Among authors: okubo m. J Hum Genet. 2005;50(10):538-542. doi: 10.1007/s10038-005-0291-3. Epub 2005 Sep 28. J Hum Genet. 2005. PMID: 16189622

3

Molecular analysis of the AGL gene: heterogeneity of mutations in patients with glycogen storage disease type III from Germany, Canada, Afghanistan, Iran, and Turkey.

Endo Y, Horinishi A, Vorgerd M, Aoyama Y, Ebara T, Murase T, Odawara M, Podskarbi T, Shin YS, Okubo M. Endo Y, et al. Among authors: okubo m. J Hum Genet. 2006;51(11):958-963. doi: 10.1007/s10038-006-0045-x. Epub 2006 Sep 19. J Hum Genet. 2006. PMID: 17047887

4

Egyptian glycogen storage disease type III - identification of six novel AGL mutations, including a large 1.5 kb deletion and a missense mutation p.L620P with subtype IIId.

Endo Y, Fateen E, El Shabrawy M, Aoyama Y, Ebara T, Murase T, Podskarbi T, Shin YS, Okubo M. Endo Y, et al. Among authors: okubo m. Clin Chem Lab Med. 2009;47(10):1233-8. doi: 10.1515/CCLM.2009.281. Clin Chem Lab Med. 2009. PMID: 19754354

5

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.

Aoyama Y, Ozer I, Demirkol M, Ebara T, Murase T, Podskarbi T, Shin YS, Gokcay G, Okubo M. Aoyama Y, et al. Among authors: okubo m. J Hum Genet. 2009 Nov;54(11):681-6. doi: 10.1038/jhg.2009.100. Epub 2009 Oct 16. J Hum Genet. 2009. PMID: 19834502

6

Molecular and clinical delineation of 12 patients with glycogen storage disease type III in Western Turkey.

Okubo M, Ucar SK, Podskarbi T, Murase T, Shin YS, Coker M. Okubo M, et al. Clin Chim Acta. 2015 Jan 15;439:162-7. doi: 10.1016/j.cca.2014.10.016. Epub 2014 Oct 23. Clin Chim Acta. 2015. PMID: 25451950

7

Mutational and haplotype analysis of AGL in patients with glycogen storage disease type III.

Horinishi A, Okubo M, Tang NL, Hui J, To KF, Mabuchi T, Okada T, Mabuchi H, Murase T. Horinishi A, et al. Among authors: okubo m. J Hum Genet. 2002;47(2):55-9. doi: 10.1007/s100380200000. J Hum Genet. 2002. PMID: 11924557

8

A novel complex deletion-insertion mutation mediated by Alu repetitive elements leads to lipoprotein lipase deficiency.

Okubo M, Horinishi A, Saito M, Ebara T, Endo Y, Kaku K, Murase T, Eto M. Okubo M, et al. Mol Genet Metab. 2007 Nov;92(3):229-33. doi: 10.1016/j.ymgme.2007.06.018. Epub 2007 Aug 13. Mol Genet Metab. 2007. PMID: 17706445

9

A 60-y-old chylomicronemia patient homozygous for missense mutation (G188E) in the lipoprotein lipase gene showed no accelerated atherosclerosis.

Ebara T, Endo Y, Yoshiike S, Tsuji M, Taguchi S, Murase T, Okubo M. Ebara T, et al. Among authors: okubo m. Clin Chim Acta. 2007 Nov-Dec;386(1-2):100-4. doi: 10.1016/j.cca.2007.08.011. Epub 2007 Sep 1. Clin Chim Acta. 2007. PMID: 17854791

10

A Japanese patient with cardiomyopathy caused by a novel mutation R285X in the AGL gene.

Ogimoto A, Okubo M, Okayama H, Shin YS, Endo Y, Ebara T, Inoue K, Ohtsuka T, Tahara H, Murase T, Higaki J. Ogimoto A, et al. Among authors: okubo m. Circ J. 2007 Oct;71(10):1653-6. doi: 10.1253/circj.71.1653. Circ J. 2007. PMID: 17895567 Free article.

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