Sasai H - Search Results

1

Clinical manifestation and long-term outcome of citrin deficiency: Report from a nationwide study in Japan.

Kido J, Häberle J, Sugawara K, Tanaka T, Nagao M, Sawada T, Wada Y, Numakura C, Murayama K, Watanabe Y, Kojima-Ishii K, Sasai H, Kosugiyama K, Nakamura K. Kido J, et al. Among authors: sasai h. J Inherit Metab Dis. 2022 May;45(3):431-444. doi: 10.1002/jimd.12483. Epub 2022 Feb 25. J Inherit Metab Dis. 2022. PMID: 35142380

2

Effectiveness of Medium-Chain Triglyceride Oil Therapy in Two Japanese Citrin-Deficient Siblings: Evaluation Using Oral Glucose Tolerance Tests.

Otsuka H, Sasai H, Abdelkreem E, Kawamoto N, Kawamoto M, Kamiya T, Tanimoto Y, Kikuchi A, Kure S, Numakura C, Hayasaka K, Fukao T. Otsuka H, et al. Among authors: sasai h. Tohoku J Exp Med. 2016 Dec;240(4):323-328. doi: 10.1620/tjem.240.323. Tohoku J Exp Med. 2016. PMID: 28003588 Free article.

3

Characterization and outcome of 41 patients with beta-ketothiolase deficiency: 10 years' experience of a medical center in northern Vietnam.

Nguyen KN, Abdelkreem E, Colombo R, Hasegawa Y, Can NT, Bui TP, Le HT, Tran MT, Nguyen HT, Trinh HT, Aoyama Y, Sasai H, Yamaguchi S, Fukao T, Vu DC. Nguyen KN, et al. Among authors: sasai h. J Inherit Metab Dis. 2017 May;40(3):395-401. doi: 10.1007/s10545-017-0026-6. Epub 2017 Feb 20. J Inherit Metab Dis. 2017. PMID: 28220263

4

Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis.

Sasai H, Aoyama Y, Otsuka H, Abdelkreem E, Naiki Y, Kubota M, Sekine Y, Itoh M, Nakama M, Ohnishi H, Fujiki R, Ohara O, Fukao T. Sasai H, et al. J Inherit Metab Dis. 2017 Nov;40(6):845-852. doi: 10.1007/s10545-017-0065-z. Epub 2017 Jul 10. J Inherit Metab Dis. 2017. PMID: 28695376

5

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: sasai h. 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.

6

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: sasai h. 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

7

Japanese patients with mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: In vitro functional analysis of five novel HMGCS2 mutations.

Ago Y, Otsuka H, Sasai H, Abdelkreem E, Nakama M, Aoyama Y, Matsumoto H, Fujiki R, Ohara O, Akiyama K, Fukui K, Watanabe Y, Nakajima Y, Ohnishi H, Ito T, Fukao T. Ago Y, et al. Among authors: sasai h. Exp Ther Med. 2020 Nov;20(5):39. doi: 10.3892/etm.2020.9166. Epub 2020 Sep 1. Exp Ther Med. 2020. PMID: 32952630 Free PMC article.

8

Short-chain enoyl-CoA hydratase deficiency causes prominent ketoacidosis with normal plasma lactate levels: A case report.

Uesugi M, Mori J, Fukuhara S, Fujii N, Omae T, Sasai H, Ichimoto K, Murayama K, Osamura T, Hosoi H. Uesugi M, et al. Among authors: sasai h. Mol Genet Metab Rep. 2020 Oct 30;25:100672. doi: 10.1016/j.ymgmr.2020.100672. eCollection 2020 Dec. Mol Genet Metab Rep. 2020. PMID: 33163364 Free PMC article.

9

A female patient with GSD IXc developing multiple and recurrent hepatocellular carcinoma: a case report and literature review.

Kido J, Mitsubuchi H, Watanabe T, Sugawara K, Sasai H, Fukao T, Nakamura K. Kido J, et al. Among authors: sasai h. Hum Genome Var. 2021 Dec 8;8(1):45. doi: 10.1038/s41439-021-00172-8. Hum Genome Var. 2021. PMID: 34876562 Free PMC article.

10

Novel ITPA variants identified by whole genome sequencing and RNA sequencing.

Omichi N, Kishita Y, Nakama M, Sasai H, Terazawa A, Kobayashi E, Fushimi T, Sugiyama Y, Ichimoto K, Nitta KR, Yatsuka Y, Ohtake A, Murayama K, Okazaki Y. Omichi N, et al. Among authors: sasai h. J Hum Genet. 2023 Sep;68(9):649-652. doi: 10.1038/s10038-023-01156-y. Epub 2023 May 29. J Hum Genet. 2023. PMID: 37246162

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