Kobayashi M - Search Results

1

Development of a new enzymatic diagnosis method for very-long-chain Acyl-CoA dehydrogenase deficiency by detecting 2-hexadecenoyl-CoA production and its application in tandem mass spectrometry-based selective screening and newborn screening in Japan.

Tajima G, Sakura N, Shirao K, Okada S, Tsumura M, Nishimura Y, Ono H, Hasegawa Y, Hata I, Naito E, Yamaguchi S, Shigematsu Y, Kobayashi M. Tajima G, et al. Among authors: kobayashi m. Pediatr Res. 2008 Dec;64(6):667-72. doi: 10.1203/PDR.0b013e318187cc44. Pediatr Res. 2008. PMID: 18670371

2

Establishment of a practical enzymatic assay method for determination of isovaleryl-CoA dehydrogenase activity using high-performance liquid chromatography.

Tajima G, Sakura N, Yofune H, Dwi Bahagia Febriani A, Nishimura Y, Sakamoto A, Ono H, Shigematsu Y, Kobayashi M. Tajima G, et al. Among authors: kobayashi m. Clin Chim Acta. 2005 Mar;353(1-2):193-9. doi: 10.1016/j.cccn.2004.11.007. Clin Chim Acta. 2005. PMID: 15698607

3

Enzymatic diagnosis of medium-chain acyl-CoA dehydrogenase deficiency by detecting 2-octenoyl-CoA production using high-performance liquid chromatography: a practical confirmatory test for tandem mass spectrometry newborn screening in Japan.

Tajima G, Sakura N, Yofune H, Nishimura Y, Ono H, Hasegawa Y, Hata I, Kimura M, Yamaguchi S, Shigematsu Y, Kobayashi M. Tajima G, et al. Among authors: kobayashi m. J Chromatogr B Analyt Technol Biomed Life Sci. 2005 Sep 5;823(2):122-30. doi: 10.1016/j.jchromb.2005.06.043. J Chromatogr B Analyt Technol Biomed Life Sci. 2005. PMID: 16046200 Review.

4

A comparison of the defective granulopoiesis in childhood cyclic neutropenia and in severe congenital neutropenia.

Sera Y, Kawaguchi H, Nakamura K, Sato T, Habara M, Okada S, Ishikawa N, Kojima S, Katoh O, Kobayashi M. Sera Y, et al. Among authors: kobayashi m. Haematologica. 2005 Aug;90(8):1032-41. Haematologica. 2005. PMID: 16079102

5

[X-linked hypogammaglobulinemia with growth hormone deficiency].

Okada S, Miyagawa S, Nishimura S, Kobayashi M, Nishi Y. Okada S, et al. Among authors: kobayashi m. Nihon Rinsho. 2006 May 28;Suppl 1:67-9. Nihon Rinsho. 2006. PMID: 16776095 Review. Japanese. No abstract available.

6

Steroid-dependent ACTH-produced thymic carcinoid: regulation of POMC gene expression by cortisol via methylation of its promoter region.

Mizoguchi Y, Kajiume T, Miyagawa S, Okada S, Nishi Y, Kobayashi M. Mizoguchi Y, et al. Among authors: kobayashi m. Horm Res. 2007;67(5):257-62. doi: 10.1159/000098548. Epub 2007 Jan 12. Horm Res. 2007. PMID: 17220632

7

The novel IFNGR1 mutation 774del4 produces a truncated form of interferon-gamma receptor 1 and has a dominant-negative effect on interferon-gamma signal transduction.

Okada S, Ishikawa N, Shirao K, Kawaguchi H, Tsumura M, Ohno Y, Yasunaga S, Ohtsubo M, Takihara Y, Kobayashi M. Okada S, et al. Among authors: kobayashi m. J Med Genet. 2007 Aug;44(8):485-91. doi: 10.1136/jmg.2007.049635. Epub 2007 May 18. J Med Genet. 2007. PMID: 17513528 Free PMC article.

8

A novel mutation (Gln433Glu) in exon 12 combined with the G insertion in exon 13 causes severe factor XI deficiency in Japanese patients.

Ishikawa N, Okada S, Sato T, Yasunaga S, Ohtsubo M, Takihara Y, Kobayashi M. Ishikawa N, et al. Among authors: kobayashi m. Blood Coagul Fibrinolysis. 2007 Jul;18(5):519-23. doi: 10.1097/MBC.0b013e328133f553. Blood Coagul Fibrinolysis. 2007. PMID: 17581330

9

Different neuroradiological findings during two stroke-like episodes in a patient with a congenital disorder of glycosylation type Ia.

Ishikawa N, Tajima G, Ono H, Kobayashi M. Ishikawa N, et al. Among authors: kobayashi m. Brain Dev. 2009 Mar;31(3):240-3. doi: 10.1016/j.braindev.2008.03.012. Epub 2008 May 15. Brain Dev. 2009. PMID: 18485644

10

Polycomb-group complex 1 acts as an E3 ubiquitin ligase for Geminin to sustain hematopoietic stem cell activity.

Ohtsubo M, Yasunaga S, Ohno Y, Tsumura M, Okada S, Ishikawa N, Shirao K, Kikuchi A, Nishitani H, Kobayashi M, Takihara Y. Ohtsubo M, et al. Among authors: kobayashi m. Proc Natl Acad Sci U S A. 2008 Jul 29;105(30):10396-401. doi: 10.1073/pnas.0800672105. Epub 2008 Jul 23. Proc Natl Acad Sci U S A. 2008. PMID: 18650381 Free PMC article.

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