Yokoi K - 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: yokoi k. 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

Disruption of the Responsible Gene in a Phosphoglucomutase 1 Deficiency Patient by Homozygous Chromosomal Inversion.

Yokoi K, Nakajima Y, Ohye T, Inagaki H, Wada Y, Fukuda T, Sugie H, Yuasa I, Ito T, Kurahashi H. Yokoi K, et al. JIMD Rep. 2019;43:85-90. doi: 10.1007/8904_2018_108. Epub 2018 May 12. JIMD Rep. 2019. PMID: 29752652 Free PMC article.

3

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. 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.

4

Assessment of factors associated with mizoribine responsiveness in children with steroid-dependent nephrotic syndrome.

Kondoh T, Ikezumi Y, Yokoi K, Nakajima Y, Matsumoto Y, Kaneko M, Hasegawa H, Yamada T, Kumagai N, Ito T, Yoshikawa T. Kondoh T, et al. Among authors: yokoi k. Clin Exp Nephrol. 2019 Sep;23(9):1154-1160. doi: 10.1007/s10157-019-01754-1. Epub 2019 Jun 11. Clin Exp Nephrol. 2019. PMID: 31187341

5

Clinical and genetic aspects of mild hypophosphatasia in Japanese patients.

Yokoi K, Nakajima Y, Shinkai Y, Sano Y, Imamura M, Akiyama T, Yoshikawa T, Ito T, Kurahashi H. Yokoi K, et al. Mol Genet Metab Rep. 2019 Oct 11;21:100515. doi: 10.1016/j.ymgmr.2019.100515. eCollection 2019 Dec. Mol Genet Metab Rep. 2019. PMID: 31641588 Free PMC article.

6

Impact of DPYD, DPYS, and UPB1 gene variations on severe drug-related toxicity in patients with cancer.

Yokoi K, Nakajima Y, Matsuoka H, Shinkai Y, Ishihara T, Maeda Y, Kato T, Katsuno H, Masumori K, Kawada K, Yoshikawa T, Ito T, Kurahashi H. Yokoi K, et al. Cancer Sci. 2020 Sep;111(9):3359-3366. doi: 10.1111/cas.14553. Epub 2020 Jul 20. Cancer Sci. 2020. PMID: 32619063 Free PMC article.

7

Novel ARG1 variants identified in a patient with arginase 1 deficiency.

Yokoi K, Nakajima Y, Yasui T, Yoshino M, Yoshikawa T, Kurahashi H, Ito T. Yokoi K, et al. Hum Genome Var. 2021 Feb 4;8(1):8. doi: 10.1038/s41439-021-00139-9. Hum Genome Var. 2021. PMID: 33542202 Free PMC article.

8

Influence of food on pharmacokinetics and pharmacodynamics of 4-phenylbutyrate in patients with urea cycle disorders.

Nakajima Y, Osaka S, Mizuno T, Yokoi K, Nakano S, Hirai S, Hiraoka Y, Miura Y, Suzuki M, Kusuhara H, Hayashi H. Nakajima Y, et al. Among authors: yokoi k. Mol Genet Metab Rep. 2021 Sep 4;29:100799. doi: 10.1016/j.ymgmr.2021.100799. eCollection 2021 Dec. Mol Genet Metab Rep. 2021. PMID: 34522617 Free PMC article.

9

Peripheral venous catheter-related candidemia in an immunocompetent child.

Sudo Y, Kawamura Y, Miura H, Yokoi K, Yoshikawa T. Sudo Y, et al. Among authors: yokoi k. Pediatr Int. 2022 Jan;64(1):e14883. doi: 10.1111/ped.14883. Epub 2021 Nov 30. Pediatr Int. 2022. PMID: 34847271 No abstract available.

10

An Infant Case of Streptococcus Pneumoniae-Associated Thrombotic Microangiopathy with Heterozygous CFI Mutation and CFHR3-CFHR1 Deletion.

Matsumoto Y, Ikezumi Y, Kondoh T, Yokoi K, Nakajima Y, Kumagai N, Kato T, Kurahashi H, Ito T. Matsumoto Y, et al. Among authors: yokoi k. Tohoku J Exp Med. 2022 Oct 25;258(3):183-193. doi: 10.1620/tjem.2022.J076. Epub 2022 Sep 8. Tohoku J Exp Med. 2022. PMID: 36070894 Free article.

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