Kosuga M - Search Results

1

Unavoidable Iatrogenic Mitral Stenosis Following Transcatheter Edge-to-Edge Mitral Valve Repair With Current Devices.

Enta Y, Saigan M, Munehisa Y, Ichikawa S, Yoshiyama K, Kosuga M, Maeda M, Teng Y, Satomi N, Kobayashi Y, Nakashima M, Toki Y, Miyasaka M, Hayatsu Y, Tada N. Enta Y, et al. Among authors: kosuga m. JACC Cardiovasc Interv. 2024 Nov 23:S1936-8798(24)01469-9. doi: 10.1016/j.jcin.2024.10.033. Online ahead of print. JACC Cardiovasc Interv. 2024. PMID: 39708012 Free article. No abstract available.

2

Long-term efficacy of intrathecal cyclodextrin in patients with Niemann-Pick disease type C.

Matsuo M, Sakakibara T, Sakiyama Y, So T, Kosuga M, Kakiuchi T, Ichinose F, Nakamura T, Ishitsuka Y, Irie T. Matsuo M, et al. Among authors: kosuga m. Brain Dev. 2024 May;46(5):207-212. doi: 10.1016/j.braindev.2024.03.002. Epub 2024 Mar 6. Brain Dev. 2024. PMID: 38448301 Free article.

3

Intracerebroventricular enzyme replacement therapy in patients with neuronopathic mucopolysaccharidosis type II: Final report of 5-year results from a Japanese open-label phase 1/2 study.

Seo JH, Kosuga M, Hamazaki T, Shintaku H, Okuyama T. Seo JH, et al. Among authors: kosuga m. Mol Genet Metab. 2023 Dec;140(4):107709. doi: 10.1016/j.ymgme.2023.107709. Epub 2023 Oct 18. Mol Genet Metab. 2023. PMID: 37922836 Clinical Trial.

4

Diagnostic Significance of Absence of Post-Feeding Contraction of the Gallbladder in Biliary Atresia: Two Case Reports.

Kosuga M, Fujii Y, Doi T, Kaneko K, Breugelmans R. Kosuga M, et al. Pediatr Rep. 2023 Sep 6;15(3):541-547. doi: 10.3390/pediatric15030049. Pediatr Rep. 2023. PMID: 37755409 Free PMC article.

5

A pediatric case of congenital stromal corneal dystrophy caused by the novel variant c.953del of the DCN gene.

Morikawa H, Nishina S, Torii K, Hosono K, Yokoi T, Shigeyasu C, Yamada M, Kosuga M, Fukami M, Saitsu H, Azuma N, Hori Y, Hotta Y. Morikawa H, et al. Among authors: kosuga m. Hum Genome Var. 2023 Mar 24;10(1):9. doi: 10.1038/s41439-023-00239-8. Hum Genome Var. 2023. PMID: 36964172 Free PMC article.

6

A Neonate with Mucopolysaccharidosis Type VII with Intractable Ascites.

Fukui K, Amari S, Yotani N, Kosaki R, Hata K, Kosuga M, Sago H, Isayama T, Ito Y. Fukui K, et al. Among authors: kosuga m. AJP Rep. 2023 Mar 16;13(1):e25-e28. doi: 10.1055/a-2028-7784. eCollection 2023 Jan. AJP Rep. 2023. PMID: 36936745 Free PMC article.

7

Automated urinary sediment detection for Fabry disease using deep-learning algorithms.

Uryu H, Migita O, Ozawa M, Kamijo C, Aoto S, Okamura K, Hasegawa F, Okuyama T, Kosuga M, Hata K. Uryu H, et al. Among authors: kosuga m. Mol Genet Metab Rep. 2022 Sep 28;33:100921. doi: 10.1016/j.ymgmr.2022.100921. eCollection 2022 Dec. Mol Genet Metab Rep. 2022. PMID: 36186840 Free PMC article.

8

Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome.

Hattori A, Okuyama T, So T, Kosuga M, Ichimoto K, Murayama K, Kagami M, Fukami M, Fukuhara Y. Hattori A, et al. Among authors: kosuga m. Hum Genome Var. 2022 Sep 12;9(1):32. doi: 10.1038/s41439-022-00211-y. Hum Genome Var. 2022. PMID: 36097158 Free PMC article.

9

Impact of intracerebroventricular enzyme replacement therapy in patients with neuronopathic mucopolysaccharidosis type II.

Seo JH, Kosuga M, Hamazaki T, Shintaku H, Okuyama T. Seo JH, et al. Among authors: kosuga m. Mol Ther Methods Clin Dev. 2021 Feb 27;21:67-75. doi: 10.1016/j.omtm.2021.02.018. eCollection 2021 Jun 11. Mol Ther Methods Clin Dev. 2021. PMID: 33768130 Free PMC article.

10

A cDNA analysis disclosed the discordance of genotype-phenotype correlation in a patient with attenuated MPS II and a 76-base deletion in the gene for iduronate-2-sulfatase.

Fukuhara Y, Miura A, Yamazaki N, So T, Kosuga M, Yanagi K, Kaname T, Yamagata T, Sakuraba H, Okuyama T. Fukuhara Y, et al. Among authors: kosuga m. Mol Genet Metab Rep. 2020 Dec 10;25:100692. doi: 10.1016/j.ymgmr.2020.100692. eCollection 2020 Dec. Mol Genet Metab Rep. 2020. PMID: 33335838 Free PMC article.

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