Osawa M - Search Results

1

Newborn screening for Pompe disease in Japan.

Oda E, Tanaka T, Migita O, Kosuga M, Fukushi M, Okumiya T, Osawa M, Okuyama T. Oda E, et al. Among authors: osawa m. Mol Genet Metab. 2011 Dec;104(4):560-5. doi: 10.1016/j.ymgme.2011.09.002. Epub 2011 Sep 10. Mol Genet Metab. 2011. PMID: 21963784

2

Prognostic factors for the late onset Pompe disease with enzyme replacement therapy: from our experience of 4 cases including an autopsy case.

Kobayashi H, Shimada Y, Ikegami M, Kawai T, Sakurai K, Urashima T, Ijima M, Fujiwara M, Kaneshiro E, Ohashi T, Eto Y, Ishigaki K, Osawa M, Kyosen SO, Ida H. Kobayashi H, et al. Among authors: osawa m. Mol Genet Metab. 2010 May;100(1):14-9. doi: 10.1016/j.ymgme.2010.01.015. Epub 2010 Feb 4. Mol Genet Metab. 2010. PMID: 20202878

3

Close monitoring of initial enzyme replacement therapy in a patient with childhood-onset Pompe disease.

Ishigaki K, Murakami T, Nakanishi T, Oda E, Sato T, Osawa M. Ishigaki K, et al. Among authors: osawa m. Brain Dev. 2012 Feb;34(2):98-102. doi: 10.1016/j.braindev.2011.05.004. Epub 2011 Jun 14. Brain Dev. 2012. PMID: 21676566

4

High-density CT of muscle and liver may allow early diagnosis of childhood-onset Pompe disease.

Ishigaki K, Yoshikawa Y, Kuwatsuru R, Oda E, Murakami T, Sato T, Saito T, Umezu R, Osawa M. Ishigaki K, et al. Among authors: osawa m. Brain Dev. 2012 Feb;34(2):103-6. doi: 10.1016/j.braindev.2011.05.013. Epub 2011 Jun 24. Brain Dev. 2012. PMID: 21704464

5

High-density areas on muscle CT in childhood-onset Pompe disease are caused by excess calcium accumulation.

Ishigaki K, Mitsuhashi S, Kuwatsuru R, Murakami T, Shishikura K, Suzuki H, Hirayama Y, Nonaka I, Osawa M. Ishigaki K, et al. Among authors: osawa m. Acta Neuropathol. 2010 Oct;120(4):537-43. doi: 10.1007/s00401-010-0732-8. Epub 2010 Aug 3. Acta Neuropathol. 2010. PMID: 20680637

6

Deep-intronic variant of fukutin is the most prevalent point mutation of Fukuyama congenital muscular dystrophy in Japan.

Kobayashi K, Kato R, Kondo-Iida E, Taniguchi-Ikeda M, Osawa M, Saito K, Toda T. Kobayashi K, et al. Among authors: osawa m. J Hum Genet. 2017 Nov;62(11):945-948. doi: 10.1038/jhg.2017.71. Epub 2017 Jul 6. J Hum Genet. 2017. PMID: 28680109

7

Nationwide survey (incidence, clinical course, prognosis) of Rasmussen's encephalitis.

Muto A, Oguni H, Takahashi Y, Shirasaka Y, Sawaishi Y, Yano T, Hoshida T, Osaka H, Nakasu S, Akasaka N, Sugai K, Miyamoto A, Takahashi S, Suzuki M, Ohmori I, Nabatame S, Osawa M. Muto A, et al. Among authors: osawa m. Brain Dev. 2010 Jun;32(6):445-53. doi: 10.1016/j.braindev.2009.10.004. Epub 2009 Nov 25. Brain Dev. 2010. PMID: 19942389

8

A 1-year-old infant with McArdle disease associated with hyper-creatine kinase-emia during febrile episodes.

Ito Y, Saito K, Shishikura K, Suzuki H, Yazaki E, Hayashi K, Fukuda T, Ito M, Sugie H, Osawa M. Ito Y, et al. Among authors: osawa m. Brain Dev. 2003 Sep;25(6):438-41. doi: 10.1016/s0387-7604(03)00037-8. Brain Dev. 2003. PMID: 12907279

9

A functional analysis of GABARAP on 17p13.1 by knockdown zebrafish.

Komoike Y, Shimojima K, Liang JS, Fujii H, Maegaki Y, Osawa M, Fujii S, Higashinakagawa T, Yamamoto T. Komoike Y, et al. Among authors: osawa m. J Hum Genet. 2010 Mar;55(3):155-62. doi: 10.1038/jhg.2010.1. Epub 2010 Jan 29. J Hum Genet. 2010. PMID: 20111057

10

Ketogenic diet therapy can improve ACTH-resistant West syndrome in Japan.

Hirano Y, Oguni H, Shiota M, Nishikawa A, Osawa M. Hirano Y, et al. Among authors: osawa m. Brain Dev. 2015 Jan;37(1):18-22. doi: 10.1016/j.braindev.2014.01.015. Epub 2014 Feb 18. Brain Dev. 2015. PMID: 24559837

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