Shigematsu Y - Search Results

1

Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications.

Yorifuji T, Kawai M, Muroi J, Mamada M, Kurokawa K, Shigematsu Y, Hirano S, Sakura N, Yoshida I, Kuhara T, Endo F, Mitsubuchi H, Nakahata T. Yorifuji T, et al. Among authors: shigematsu y. Hum Genet. 2002 Aug;111(2):161-5. doi: 10.1007/s00439-002-0761-z. Epub 2002 Jul 4. Hum Genet. 2002. PMID: 12189489

2

Clinical features and management of organic acidemias in Japan.

Fujisawa D, Nakamura K, Mitsubuchi H, Ohura T, Shigematsu Y, Yorifuji T, Kasahara M, Horikawa R, Endo F. Fujisawa D, et al. Among authors: shigematsu y. J Hum Genet. 2013 Dec;58(12):769-74. doi: 10.1038/jhg.2013.97. Epub 2013 Sep 26. J Hum Genet. 2013. PMID: 24067294

3

Current status of hepatic glycogen storage disease in Japan: clinical manifestations, treatments and long-term outcomes.

Kido J, Nakamura K, Matsumoto S, Mitsubuchi H, Ohura T, Shigematsu Y, Yorifuji T, Kasahara M, Horikawa R, Endo F. Kido J, et al. Among authors: shigematsu y. J Hum Genet. 2013 May;58(5):285-92. doi: 10.1038/jhg.2013.17. Epub 2013 Mar 14. J Hum Genet. 2013. PMID: 23486339

4

Molecular pathogenesis of a novel mutation, G108D, in short-chain acyl-CoA dehydrogenase identified in subjects with short-chain acyl-CoA dehydrogenase deficiency.

Shirao K, Okada S, Tajima G, Tsumura M, Hara K, Yasunaga S, Ohtsubo M, Hata I, Sakura N, Shigematsu Y, Takihara Y, Kobayashi M. Shirao K, et al. Among authors: shigematsu y. Hum Genet. 2010 Jun;127(6):619-28. doi: 10.1007/s00439-010-0822-7. Epub 2010 Apr 8. Hum Genet. 2010. PMID: 20376488 Review.

5

Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan.

Shigematsu Y, Hirano S, Hata I, Tanaka Y, Sudo M, Sakura N, Tajima T, Yamaguchi S. Shigematsu Y, et al. J Chromatogr B Analyt Technol Biomed Life Sci. 2002 Aug 25;776(1):39-48. doi: 10.1016/s1570-0232(02)00077-6. J Chromatogr B Analyt Technol Biomed Life Sci. 2002. PMID: 12127323

6

Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation.

Tajima G, Hara K, Tsumura M, Kagawa R, Okada S, Sakura N, Hata I, Shigematsu Y, Kobayashi M. Tajima G, et al. Among authors: shigematsu y. Mol Genet Metab. 2016 Dec;119(4):322-328. doi: 10.1016/j.ymgme.2016.10.007. Epub 2016 Oct 21. Mol Genet Metab. 2016. PMID: 27856190

7

Selective screening for fatty acid oxidation disorders by tandem mass spectrometry: difficulties in practical discrimination.

Shigematsu Y, Hirano S, Hata I, Tanaka Y, Sudo M, Tajima T, Sakura N, Yamaguchi S, Takayanagi M. Shigematsu Y, et al. J Chromatogr B Analyt Technol Biomed Life Sci. 2003 Jul 15;792(1):63-72. doi: 10.1016/s1570-0232(03)00281-2. J Chromatogr B Analyt Technol Biomed Life Sci. 2003. PMID: 12828998

8

Long-term outcome and intervention of urea cycle disorders in Japan.

Kido J, Nakamura K, Mitsubuchi H, Ohura T, Takayanagi M, Matsuo M, Yoshino M, Shigematsu Y, Yorifuji T, Kasahara M, Horikawa R, Endo F. Kido J, et al. Among authors: shigematsu y. J Inherit Metab Dis. 2012 Sep;35(5):777-85. doi: 10.1007/s10545-011-9427-0. Epub 2011 Dec 14. J Inherit Metab Dis. 2012. PMID: 22167275

9

VLCAD deficiency in a patient who recovered from ventricular fibrillation, but died suddenly of a respiratory syncytial virus infection.

Yamamoto A, Nakamura K, Matsumoto S, Iwai M, Shigematsu Y, Tajima G, Tsumura M, Okada S, Mitsubuchi H, Endo F. Yamamoto A, et al. Among authors: shigematsu y. Pediatr Int. 2013 Dec;55(6):775-8. doi: 10.1111/ped.12111. Pediatr Int. 2013. PMID: 24330285

10

Importance of molecular diagnosis in the accurate diagnosis of systemic carnitine deficiency.

Hitomi T, Matsuura N, Shigematsu Y, Okano Y, Shinozaki E, Kawai M, Kobayashi H, Harada KH, Koizumi A. Hitomi T, et al. Among authors: shigematsu y. J Genet. 2015 Mar;94(1):147-50. doi: 10.1007/s12041-015-0486-0. J Genet. 2015. PMID: 25846890 No abstract available.

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