Nakajima Y - Search Results

1

Identification of a Novel Mutation in Carboxyl Ester Lipase Gene in a Patient with MODY-like Diabetes.

Kondoh T, Nakajima Y, Yokoi K, Matsumoto Y, Inagaki H, Kato T, Nakajima Y, Ito T, Yoshikawa T, Kurahashi H. Kondoh T, et al. Among authors: nakajima y. Tohoku J Exp Med. 2022 Jan;256(1):37-41. doi: 10.1620/tjem.256.37. Tohoku J Exp Med. 2022. PMID: 35082198 Free 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

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.

4

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.

5

Kinetic and molecular orbital analyses of dicarboxylic acylcarnitine methylesterification show that derivatization may affect the screening of newborns by tandem mass spectrometry.

Maeda Y, Nakajima Y, Gotoh K, Hotta Y, Kataoka T, Sugiyama N, Shirai N, Ito T, Kimura K. Maeda Y, et al. Among authors: nakajima y. Bioorg Med Chem Lett. 2016 Jan 1;26(1):121-5. doi: 10.1016/j.bmcl.2015.11.016. Epub 2015 Nov 10. Bioorg Med Chem Lett. 2016. PMID: 26597535

6

Altered Pre-mRNA Splicing Caused by a Novel Intronic Mutation c.1443+5G>A in the Dihydropyrimidinase (DPYS) Gene.

Nakajima Y, Meijer J, Zhang C, Wang X, Kondo T, Ito T, Dobritzsch D, Van Kuilenburg AB. Nakajima Y, et al. Int J Mol Sci. 2016 Jan 12;17(1):86. doi: 10.3390/ijms17010086. Int J Mol Sci. 2016. PMID: 26771602 Free PMC article.

7

Successful living donor liver transplantation for classical maple syrup urine disease.

Yasui T, Suzuki T, Hara F, Watanabe S, Uga N, Naoe A, Yoshikawa T, Ito T, Nakajima Y, Miura H, Sugioka A, Kato Y, Tokoro T, Tanahashi Y, Kasahara M, Fukuda A, Kurahashi H. Yasui T, et al. Among authors: nakajima y. Pediatr Transplant. 2016 Aug;20(5):707-710. doi: 10.1111/petr.12738. Epub 2016 Jun 20. Pediatr Transplant. 2016. PMID: 27319399

8

A Japanese case of β-ureidopropionase deficiency with dysmorphic features.

Akiyama T, Shibata T, Yoshinaga H, Kuhara T, Nakajima Y, Kato T, Maeda Y, Ohse M, Oka M, Kageyama M, Kobayashi K. Akiyama T, et al. Among authors: nakajima y. Brain Dev. 2017 Jan;39(1):58-61. doi: 10.1016/j.braindev.2016.08.001. Epub 2016 Aug 21. Brain Dev. 2017. PMID: 27553092

9

Determination of methylmalonyl coenzyme A by ultra high-performance liquid chromatography tandem mass spectrometry for measuring propionyl coenzyme A carboxylase activity in patients with propionic acidemia.

Gotoh K, Nakajima Y, Tajima G, Watanabe Y, Hotta Y, Kataoka T, Kawade Y, Sugiyama N, Ito T, Kimura K, Maeda Y. Gotoh K, et al. Among authors: nakajima y. J Chromatogr B Analyt Technol Biomed Life Sci. 2017 Mar 1;1046:195-199. doi: 10.1016/j.jchromb.2017.02.003. Epub 2017 Feb 6. J Chromatogr B Analyt Technol Biomed Life Sci. 2017. PMID: 28189105

10

Development of tandem mass spectrometry-based creatinine measurement using dried blood spot for newborn mass screening.

Nakano M, Uemura O, Honda M, Ito T, Nakajima Y, Saitoh S. Nakano M, et al. Among authors: nakajima y. Pediatr Res. 2017 Aug;82(2):237-243. doi: 10.1038/pr.2017.56. Epub 2017 May 17. Pediatr Res. 2017. PMID: 28422942

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