Takeshima Y - Search Results

1

Food Preferences of Patients with Citrin Deficiency.

Okamoto M, Okano Y, Okano M, Yazaki M, Inui A, Ohura T, Murayama K, Watanabe Y, Tokuhara D, Takeshima Y. Okamoto M, et al. Among authors: takeshima y. Nutrients. 2021 Sep 6;13(9):3123. doi: 10.3390/nu13093123. Nutrients. 2021. PMID: 34579000 Free PMC article.

2

Mitochondrial respiratory chain complex IV deficiency complicated with chronic intestinal pseudo-obstruction in a neonate.

Hashimura Y, Morioka I, Hisamatsu C, Yokoyama N, Taniguchi-Ikeda M, Yokozaki H, Murayama K, Ohtake A, Itoh K, Takeshima Y, Iijima K. Hashimura Y, et al. Among authors: takeshima y. Pediatr Int. 2016 Jul;58(7):651-5. doi: 10.1111/ped.12907. Epub 2016 Jun 6. Pediatr Int. 2016. PMID: 27264907

3

Late-onset ornithine transcarbamylase deficiency caused by a somatic mosaic mutation.

Lee T, Misaki M, Shimomura H, Tanaka Y, Yoshida S, Murayama K, Nakamura K, Fujiki R, Ohara O, Sasai H, Fukao T, Takeshima Y. Lee T, et al. Among authors: takeshima y. Hum Genome Var. 2018 Aug 16;5:22. doi: 10.1038/s41439-018-0022-x. eCollection 2018. Hum Genome Var. 2018. PMID: 30131866 Free PMC article.

4

Retrospective evaluations revealed pre-symptomatic citrulline concentrations measured by newborn screening were significantly low in late-onset ornithine transcarbamylase deficiency patients.

Lee T, Yoshii K, Yoshida S, Suga T, Nakamura K, Sasai H, Murayama K, Kobayashi H, Hasegawa Y, Takeshima Y. Lee T, et al. Among authors: takeshima y. Clin Chim Acta. 2020 Nov;510:633-637. doi: 10.1016/j.cca.2020.08.027. Epub 2020 Aug 20. Clin Chim Acta. 2020. PMID: 32828733

5

Analysis of daily energy, protein, fat, and carbohydrate intake in citrin-deficient patients: Towards prevention of adult-onset type II citrullinemia.

Okano Y, Okamoto M, Yazaki M, Inui A, Ohura T, Murayama K, Watanabe Y, Tokuhara D, Takeshima Y. Okano Y, et al. Among authors: takeshima y. Mol Genet Metab. 2021 May;133(1):63-70. doi: 10.1016/j.ymgme.2021.03.004. Epub 2021 Mar 10. Mol Genet Metab. 2021. PMID: 33741270 Free article.

6

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. Among authors: takeshima y. 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.

7

Somatic mosaicism for a mutation of the COL4A5 gene is a cause of mild phenotype male Alport syndrome.

Krol RP, Nozu K, Nakanishi K, Iijima K, Takeshima Y, Fu XJ, Nozu Y, Kaito H, Kanda K, Matsuo M, Yoshikawa N. Krol RP, et al. Among authors: takeshima y. Nephrol Dial Transplant. 2008 Aug;23(8):2525-30. doi: 10.1093/ndt/gfn005. Epub 2008 Mar 10. Nephrol Dial Transplant. 2008. PMID: 18332068

8

Two Japanese infants with congenital generalized lipodystrophy due to BSCL2 mutations.

Nishiyama A, Yagi M, Awano H, Okizuka Y, Maeda T, Yoshida S, Takeshima Y, Matsuo M. Nishiyama A, et al. Among authors: takeshima y. Pediatr Int. 2009 Dec;51(6):775-9. doi: 10.1111/j.1442-200X.2009.02863.x. Epub 2009 Mar 31. Pediatr Int. 2009. PMID: 19438831

9

In vivo and in vitro splicing assay of SLC12A1 in an antenatal salt-losing tubulopathy patient with an intronic mutation.

Nozu K, Iijima K, Kawai K, Nozu Y, Nishida A, Takeshima Y, Fu XJ, Hashimura Y, Kaito H, Nakanishi K, Yoshikawa N, Matsuo M. Nozu K, et al. Among authors: takeshima y. Hum Genet. 2009 Oct;126(4):533-8. doi: 10.1007/s00439-009-0697-7. Epub 2009 Jun 10. Hum Genet. 2009. PMID: 19513753

10

Low incidence of limb-girdle muscular dystrophy type 2C revealed by a mutation study in Japanese patients clinically diagnosed with DMD.

Okizuka Y, Takeshima Y, Itoh K, Zhang Z, Awano H, Maruyama K, Kumagai T, Yagi M, Matsuo M. Okizuka Y, et al. Among authors: takeshima y. BMC Med Genet. 2010 Mar 30;11:49. doi: 10.1186/1471-2350-11-49. BMC Med Genet. 2010. PMID: 20350330 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

628 results

Search Page