Kagawa R - Search Results

1

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: kagawa r. 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

2

Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan.

Hara K, Tajima G, Okada S, Tsumura M, Kagawa R, Shirao K, Ohno Y, Yasunaga S, Ohtsubo M, Hata I, Sakura N, Shigematsu Y, Takihara Y, Kobayashi M. Hara K, et al. Among authors: kagawa r. Mol Genet Metab. 2016 May;118(1):9-14. doi: 10.1016/j.ymgme.2015.12.011. Epub 2015 Dec 29. Mol Genet Metab. 2016. PMID: 26947917

3

Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity.

Tajima G, Hara K, Tsumura M, Kagawa R, Okada S, Sakura N, Maruyama S, Noguchi A, Awaya T, Ishige M, Ishige N, Musha I, Ajihara S, Ohtake A, Naito E, Hamada Y, Kono T, Asada T, Sasai H, Fukao T, Fujiki R, Ohara O, Bo R, Yamada K, Kobayashi H, Hasegawa Y, Yamaguchi S, Takayanagi M, Hata I, Shigematsu Y, Kobayashi M. Tajima G, et al. Among authors: kagawa r. Mol Genet Metab. 2017 Nov;122(3):67-75. doi: 10.1016/j.ymgme.2017.07.011. Epub 2017 Jul 31. Mol Genet Metab. 2017. PMID: 28801073

4

Current Perspectives on Neonatal Screening for Propionic Acidemia in Japan: An Unexpectedly High Incidence of Patients with Mild Disease Caused by a Common PCCB Variant.

Tajima G, Kagawa R, Sakura F, Nakamura-Utsunomiya A, Hara K, Yuasa M, Hasegawa Y, Sasai H, Okada S. Tajima G, et al. Among authors: kagawa r. Int J Neonatal Screen. 2021 Jun 28;7(3):35. doi: 10.3390/ijns7030035. Int J Neonatal Screen. 2021. PMID: 34203287 Free PMC article. Review.

5

Pilot Study on Neonatal Screening for Methylmalonic Acidemia Caused by Defects in the Adenosylcobalamin Synthesis Pathway and Homocystinuria Caused by Defects in Homocysteine Remethylation.

Kagawa R, Tajima G, Maeda T, Sakura F, Nakamura-Utsunomiya A, Hara K, Nishimura Y, Yuasa M, Shigematsu Y, Tanaka H, Fujihara S, Yoshii C, Okada S. Kagawa R, et al. Int J Neonatal Screen. 2021 Jul 7;7(3):39. doi: 10.3390/ijns7030039. Int J Neonatal Screen. 2021. PMID: 34287232 Free PMC article.

6

Heterozygosity for the Y701C STAT1 mutation in a multiplex kindred with multifocal osteomyelitis.

Hirata O, Okada S, Tsumura M, Kagawa R, Miki M, Kawaguchi H, Nakamura K, Boisson-Dupuis S, Casanova JL, Takihara Y, Kobayashi M. Hirata O, et al. Among authors: kagawa r. Haematologica. 2013 Oct;98(10):1641-9. doi: 10.3324/haematol.2013.083741. Epub 2013 Apr 12. Haematologica. 2013. PMID: 23585529 Free PMC article.

7

Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in KMT2D, a Gene Associated with Kabuki Syndrome: A Case Report.

Sakata S, Okada S, Aoyama K, Hara K, Tani C, Kagawa R, Utsunomiya-Nakamura A, Miyagawa S, Ogata T, Mizuno H, Kobayashi M. Sakata S, et al. Among authors: kagawa r. Front Genet. 2017 Dec 11;8:210. doi: 10.3389/fgene.2017.00210. eCollection 2017. Front Genet. 2017. PMID: 29321794 Free PMC article.

8

A Case Report of a Japanese Boy with Morquio A Syndrome: Effects of Enzyme Replacement Therapy Initiated at the Age of 24 Months.

Nakamura-Utsunomiya A, Nakamae T, Kagawa R, Karakawa S, Sakata S, Sakura F, Tani C, Matsubara Y, Ishino T, Tajima G, Okada S. Nakamura-Utsunomiya A, et al. Among authors: kagawa r. Int J Mol Sci. 2020 Feb 2;21(3):989. doi: 10.3390/ijms21030989. Int J Mol Sci. 2020. PMID: 32024277 Free PMC article.

9

Severity estimation of very-long-chain acyl-CoA dehydrogenase deficiency via ¹³C-fatty acid loading test.

Sugihara K, Yuasa M, Isozaki Y, Hata I, Ohshima Y, Hamazaki T, Kakiuchi T, Arao M, Igarashi N, Kotani Y, Fukuda T, Kagawa R, Tajima G, Shigematsu Y. Sugihara K, et al. Among authors: kagawa r. Pediatr Res. 2022 Nov;92(5):1391-1399. doi: 10.1038/s41390-022-01979-z. Epub 2022 Feb 8. Pediatr Res. 2022. PMID: 35136200

10

Autosomal recessive complete STAT1 deficiency caused by compound heterozygous intronic mutations.

Sakata S, Tsumura M, Matsubayashi T, Karakawa S, Kimura S, Tamaura M, Okano T, Naruto T, Mizoguchi Y, Kagawa R, Nishimura S, Imai K, Le Voyer T, Casanova JL, Bustamante J, Morio T, Ohara O, Kobayashi M, Okada S. Sakata S, et al. Among authors: kagawa r. Int Immunol. 2020 Sep 30;32(10):663-671. doi: 10.1093/intimm/dxaa043. Int Immunol. 2020. PMID: 32603428

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