Nakajima Y - Search Results

1

Exonic duplication of the OTC gene by a complex rearrangement that likely occurred via a replication-based mechanism: a case report.

Yokoi K, Nakajima Y, Inagaki H, Tsutsumi M, Ito T, Kurahashi H. Yokoi K, et al. Among authors: nakajima y. BMC Med Genet. 2018 Dec 12;19(1):210. doi: 10.1186/s12881-018-0733-3. BMC Med Genet. 2018. PMID: 30541480 Free PMC article.

2

Acylcarnitine profiles during carnitine loading and fasting tests in a Japanese patient with medium-chain acyl-CoA dehydrogenase deficiency.

Yokoi K, Ito T, Maeda Y, Nakajima Y, Ueta A, Nomura T, Koyama N, Kato I, Suzuki S, Kurono Y, Sugiyama N, Togari H. Yokoi K, et al. Among authors: nakajima y. Tohoku J Exp Med. 2007 Dec;213(4):351-9. doi: 10.1620/tjem.213.351. Tohoku J Exp Med. 2007. PMID: 18075239 Free article.

3

A case of holocarboxylase synthetase deficiency with insufficient response to prenatal biotin therapy.

Yokoi K, Ito T, Maeda Y, Nakajima Y, Kurono Y, Sugiyama N, Togari H. Yokoi K, et al. Among authors: nakajima y. Brain Dev. 2009 Nov;31(10):775-8. doi: 10.1016/j.braindev.2008.12.016. Epub 2009 Feb 6. Brain Dev. 2009. PMID: 19201116

4

Parieto-occipital encephalomalacia in neonatal hyperammonemia with ornithine transcarbamylase deficiency: A case report.

Okanishi T, Ito T, Nakajima Y, Ito K, Kakita H, Yamada Y, Kobayashi S, Ando N, Togari H. Okanishi T, et al. Among authors: nakajima y. Brain Dev. 2010 Aug;32(7):567-70. doi: 10.1016/j.braindev.2009.07.001. Epub 2009 Jul 28. Brain Dev. 2010. PMID: 19640662

5

Detection of pivaloylcarnitine in pediatric patients with hypocarnitinemia after long-term administration of pivalate-containing antibiotics.

Nakajima Y, Ito T, Maeda Y, Ichiki S, Sugiyama N, Mizuno M, Makino Y, Sugiura T, Kurono Y, Togari H. Nakajima Y, et al. Tohoku J Exp Med. 2010 Aug;221(4):309-13. doi: 10.1620/tjem.221.309. Tohoku J Exp Med. 2010. PMID: 20651467 Free article.

6

Pediatric patients receiving ABO-incompatible living related liver transplantation exhibit higher serum transforming growth factor-β1, interferon-γ and interleukin-2 levels.

Hussein MH, Hashimoto T, AbdEl-Hamid Daoud G, Kato T, Hibi M, Tomishige H, Hara F, Suzuki T, Nakajima Y, Goto T, Ito T, Kato I, Sugioka A, Togari H. Hussein MH, et al. Among authors: nakajima y. Pediatr Surg Int. 2011 Mar;27(3):263-8. doi: 10.1007/s00383-010-2784-1. Pediatr Surg Int. 2011. PMID: 21046118

7

Evaluation of valproate effects on acylcarnitine in epileptic children by LC-MS/MS.

Nakajima Y, Ito T, Maeda Y, Ichiki S, Kobayashi S, Ando N, Hussein MH, Kurono Y, Sugiyama N, Togari H. Nakajima Y, et al. Brain Dev. 2011 Nov;33(10):816-23. doi: 10.1016/j.braindev.2010.12.003. Epub 2010 Dec 31. Brain Dev. 2011. PMID: 21196091

8

Children undergoing liver transplantation for treatment of inherited metabolic diseases are prone to higher oxidative stress, complement activity and transforming growth factor-β1.

Hussein MH, Hashimoto T, Suzuki T, Daoud GA, Goto T, Nakajima Y, Kato T, Hibi M, Tomishige H, Hara F, Kato S, Kakita H, Kamei M, Ito T, Kato I, Sugioka A, Togari H. Hussein MH, et al. Among authors: nakajima y. Ann Transplant. 2013 Feb 17;18:63-8. doi: 10.12659/AOT.883820. Ann Transplant. 2013. PMID: 23792503

9

Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation [corrected].

Nakajima Y, Meijer J, Dobritzsch D, Ito T, Meinsma R, Abeling NG, Roelofsen J, Zoetekouw L, Watanabe Y, Tashiro K, Lee T, Takeshima Y, Mitsubuchi H, Yoneyama A, Ohta K, Eto K, Saito K, Kuhara T, van Kuilenburg AB. Nakajima Y, et al. J Inherit Metab Dis. 2014 Sep;37(5):801-12. doi: 10.1007/s10545-014-9682-y. Epub 2014 Feb 14. J Inherit Metab Dis. 2014. PMID: 24526388 Free PMC article.

10

Pitfall in the Diagnosis of Fructose-1,6-Bisphosphatase Deficiency: Difficulty in Detecting Glycerol-3-Phosphate with Solvent Extraction in Urinary GC/MS Analysis.

Kato S, Nakajima Y, Awaya R, Hata I, Shigematsu Y, Saitoh S, Ito T. Kato S, et al. Among authors: nakajima y. Tohoku J Exp Med. 2015 Nov;237(3):235-9. doi: 10.1620/tjem.237.235. Tohoku J Exp Med. 2015. PMID: 26549536 Free article.

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