Sakai N - Search Results

1

Experiences of patients with lysosomal storage disorders treated with enzyme replacement therapy: a qualitative systematic review protocol.

Koto Y, Ueki S, Yamakawa M, Sakai N. Koto Y, et al. Among authors: sakai n. JBI Evid Synth. 2021 Mar;19(3):702-708. doi: 10.11124/JBIES-20-00017. JBI Evid Synth. 2021. PMID: 33165172

2

Prevalence of patients with lysosomal storage disorders and peroxisomal disorders: A nationwide survey in Japan.

Koto Y, Sakai N, Lee Y, Kakee N, Matsuda J, Tsuboi K, Shimozawa N, Okuyama T, Nakamura K, Narita A, Kobayashi H, Uehara R, Nakamura Y, Kato K, Eto Y. Koto Y, et al. Among authors: sakai n. Mol Genet Metab. 2021 Jul;133(3):277-288. doi: 10.1016/j.ymgme.2021.05.004. Epub 2021 May 12. Mol Genet Metab. 2021. PMID: 34090759

3

Experiences of patients with lysosomal storage disorders who are receiving enzyme-replacement therapy and the experiences of their family members: a qualitative systematic review.

Koto Y, Ueki S, Yamakawa M, Sakai N. Koto Y, et al. Among authors: sakai n. JBI Evid Synth. 2022 Jun 1;20(6):1474-1510. doi: 10.11124/JBIES-21-00074. JBI Evid Synth. 2022. PMID: 34839313 Review.

4

Translation of quality of life scale for pediatric patients with Fabry disease in Japan.

Koto Y, Lee Y, Hadano N, Yamashita W, Kokubu C, Ramaswami U, Sakai N. Koto Y, et al. Among authors: sakai n. Mol Genet Metab Rep. 2022 Mar 3;31:100854. doi: 10.1016/j.ymgmr.2022.100854. eCollection 2022 Jun. Mol Genet Metab Rep. 2022. PMID: 35782618 Free PMC article.

5

Qualitative analysis of patient interviews on the burden of neuronopathic Gaucher disease in Japan.

Koto Y, Narita A, Noto S, Ono M, Hamada AL, Sakai N. Koto Y, et al. Among authors: sakai n. Orphanet J Rare Dis. 2022 Jul 19;17(1):280. doi: 10.1186/s13023-022-02429-z. Orphanet J Rare Dis. 2022. PMID: 35854314 Free PMC article.

6

Assessment of Characteristics of Imaging Biomarkers for Quantifying Anterior Cingulate Cortex Changes: A Twin Study of Middle- to Advanced-Aged Populations in East Asia.

Takahashi H, Watanabe Y, Hirakawa T, Tanaka H, Tomiyama N, Koto Y, Sakai N, Osaka Twin Research Group. Takahashi H, et al. Among authors: sakai n. Medicina (Kaunas). 2022 Dec 16;58(12):1855. doi: 10.3390/medicina58121855. Medicina (Kaunas). 2022. PMID: 36557058 Free PMC article.

7

Correction: Qualitative analysis of patient interviews on the burden of neuronopathic Gaucher disease in Japan.

Koto Y, Narita A, Noto S, Ono M, Hamada AL, Sakai N. Koto Y, et al. Among authors: sakai n. Orphanet J Rare Dis. 2023 Mar 24;18(1):67. doi: 10.1186/s13023-023-02659-9. Orphanet J Rare Dis. 2023. PMID: 36964591 Free PMC article. No abstract available.

8

Development and evaluation of a patient-reported outcome measure specific for Gaucher disease with or without neurological symptoms in Japan.

Narita A, Koto Y, Noto S, Okada M, Ono M, Baba T, Sagara R, Sakai N. Narita A, et al. Among authors: sakai n. Orphanet J Rare Dis. 2024 Jan 5;19(1):11. doi: 10.1186/s13023-023-02996-9. Orphanet J Rare Dis. 2024. PMID: 38183145 Free PMC article.

9

Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.

Hughes DA, Nicholls K, Shankar SP, Sunder-Plassmann G, Koeller D, Nedd K, Vockley G, Hamazaki T, Lachmann R, Ohashi T, Olivotto I, Sakai N, Deegan P, Dimmock D, Eyskens F, Germain DP, Goker-Alpan O, Hachulla E, Jovanovic A, Lourenco CM, Narita I, Thomas M, Wilcox WR, Bichet DG, Schiffmann R, Ludington E, Viereck C, Kirk J, Yu J, Johnson F, Boudes P, Benjamin ER, Lockhart DJ, Barlow C, Skuban N, Castelli JP, Barth J, Feldt-Rasmussen U. Hughes DA, et al. Among authors: sakai n. J Med Genet. 2017 Apr;54(4):288-296. doi: 10.1136/jmedgenet-2016-104178. Epub 2016 Nov 10. J Med Genet. 2017. PMID: 27834756 Free PMC article. Clinical Trial.

10

Urinary mulberry bodies as a potential biomarker for early diagnosis and efficacy assessment of enzyme replacement therapy in Fabry nephropathy.

Yonishi H, Namba-Hamano T, Hamano T, Hotta M, Nakamura J, Sakai S, Minami S, Yamamoto T, Takahashi A, Kobayashi W, Maeda I, Hidaka Y, Takabatake Y, Sakai N, Isaka Y. Yonishi H, et al. Among authors: sakai n, sakai s. Nephrol Dial Transplant. 2021 Dec 31;37(1):53-62. doi: 10.1093/ndt/gfaa298. Nephrol Dial Transplant. 2021. PMID: 33367839

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