Matsumoto H - Search Results

1

Recent advances in understanding beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency.

Fukao T, Sasai H, Aoyama Y, Otsuka H, Ago Y, Matsumoto H, Abdelkreem E. Fukao T, et al. Among authors: matsumoto h. J Hum Genet. 2019 Feb;64(2):99-111. doi: 10.1038/s10038-018-0524-x. Epub 2018 Nov 5. J Hum Genet. 2019. PMID: 30393371 Review.

2

Beta-ketothiolase deficiency: A case with unusual presentation of nonketotic hypoglycemic episodes due to coexistent probable secondary carnitine deficiency.

Alijanpour M, Sasai H, Abdelkreem E, Ago Y, Soleimani S, Moslemi L, Yamaguchi S, Rezapour M, Hakimi MT, Matsumoto H, Fukao T. Alijanpour M, et al. Among authors: matsumoto h. JIMD Rep. 2019 Mar 14;46(1):23-27. doi: 10.1002/jmd2.12022. eCollection 2019 Mar. JIMD Rep. 2019. PMID: 31240151 Free PMC article.

3

Deficiency of 3-hydroxybutyrate dehydrogenase (BDH1) in mice causes low ketone body levels and fatty liver during fasting.

Otsuka H, Kimura T, Ago Y, Nakama M, Aoyama Y, Abdelkreem E, Matsumoto H, Ohnishi H, Sasai H, Osawa M, Yamaguchi S, Mitchell GA, Fukao T. Otsuka H, et al. Among authors: matsumoto h. J Inherit Metab Dis. 2020 Sep;43(5):960-968. doi: 10.1002/jimd.12243. Epub 2020 Apr 23. J Inherit Metab Dis. 2020. PMID: 32279332

4

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: matsumoto 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.

5

Founder genetic variants of ABCC4 and ABCC11 in the Japanese population are not associated with the development of subacute myelo-optico-neuropathy (SMON).

Matsumoto H, Sasai H, Kawamoto N, Katsuyama M, Minamiyama M, Kuru S, Fukao T, Ohnishi H; SMON research group members. Matsumoto H, et al. Mol Genet Genomic Med. 2022 Jan;10(1):e1845. doi: 10.1002/mgg3.1845. Epub 2021 Dec 24. Mol Genet Genomic Med. 2022. PMID: 34951141 Free PMC article.

6

In vitro functional analysis of four variants of human asparagine synthetase.

Matsumoto H, Kawashima N, Yamamoto T, Nakama M, Otsuka H, Ago Y, Sasai H, Kubota K, Ozeki M, Kawamoto N, Esaka Y, Ohnishi H. Matsumoto H, et al. J Inherit Metab Dis. 2021 Sep;44(5):1226-1234. doi: 10.1002/jimd.12408. Epub 2021 Jun 9. J Inherit Metab Dis. 2021. PMID: 34080208

7

Immediate postnatal central hypothyroidism caused by maternal Graves' disease: Importance of early screening.

Tochibora S, Hori T, Mori M, Matsumoto H, Otsuka H, Sasai H, Ito Y, Kasahara Y, Kawamoto N, Ohnishi H. Tochibora S, et al. Among authors: matsumoto h. Clin Case Rep. 2022 Jul 14;10(7):e6061. doi: 10.1002/ccr3.6061. eCollection 2022 Jul. Clin Case Rep. 2022. PMID: 35846938 Free PMC article.

8

Prepubertal onset of slipped capital femoral epiphysis associated with hypothyroidism: a case report and literature review.

Kadowaki S, Hori T, Matsumoto H, Kanda K, Ozeki M, Shirakami Y, Kawamoto N, Ohnishi H, Fukao T. Kadowaki S, et al. Among authors: matsumoto h. BMC Endocr Disord. 2017 Sep 18;17(1):59. doi: 10.1186/s12902-017-0210-6. BMC Endocr Disord. 2017. PMID: 28923047 Free PMC article. Review.

9

Autosomal dominant Hashimoto's thyroiditis with a mutation in TNFAIP3.

Hori T, Ohnishi H, Kadowaki T, Kawamoto N, Matsumoto H, Ohara O, Fukao T. Hori T, et al. Among authors: matsumoto h. Clin Pediatr Endocrinol. 2019;28(3):91-96. doi: 10.1297/cpe.28.91. Epub 2019 Jul 20. Clin Pediatr Endocrinol. 2019. PMID: 31384100 Free PMC article.

10

Successful Everolimus Treatment of Kaposiform Hemangioendothelioma With Kasabach-Merritt Phenomenon: Clinical Efficacy and Adverse Effects of mTOR Inhibitor Therapy.

Matsumoto H, Ozeki M, Hori T, Kanda K, Kawamoto N, Nagano A, Azuma E, Miyazaki T, Fukao T. Matsumoto H, et al. J Pediatr Hematol Oncol. 2016 Nov;38(8):e322-e325. doi: 10.1097/MPH.0000000000000509. J Pediatr Hematol Oncol. 2016. PMID: 26907642

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