Nakamura K - Search Results

1

Enzyme Replacement Therapy with Pabinafusp Alfa for Neuronopathic Mucopolysaccharidosis II: An Integrated Analysis of Preclinical and Clinical Data.

Giugliani R, Martins AM, Okuyama T, Eto Y, Sakai N, Nakamura K, Morimoto H, Minami K, Yamamoto T, Yamaoka M, Ikeda T, So S, Tanizawa K, Sonoda H, Schmidt M, Sato Y. Giugliani R, et al. Among authors: nakamura k. Int J Mol Sci. 2021 Oct 10;22(20):10938. doi: 10.3390/ijms222010938. Int J Mol Sci. 2021. PMID: 34681597 Free PMC article.

2

High frequency of acid alpha-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population.

Kumamoto S, Katafuchi T, Nakamura K, Endo F, Oda E, Okuyama T, Kroos MA, Reuser AJ, Okumiya T. Kumamoto S, et al. Among authors: nakamura k. Mol Genet Metab. 2009 Jul;97(3):190-5. doi: 10.1016/j.ymgme.2009.03.004. Epub 2009 Mar 18. Mol Genet Metab. 2009. PMID: 19362502

3

Improved assay for differential diagnosis between Pompe disease and acid α-glucosidase pseudodeficiency on dried blood spots.

Shigeto S, Katafuchi T, Okada Y, Nakamura K, Endo F, Okuyama T, Takeuchi H, Kroos MA, Verheijen FW, Reuser AJ, Okumiya T. Shigeto S, et al. Among authors: nakamura k. Mol Genet Metab. 2011 May;103(1):12-7. doi: 10.1016/j.ymgme.2011.01.006. Epub 2011 Jan 22. Mol Genet Metab. 2011. PMID: 21320792

4

Clinical and genetic features of lysinuric protein intolerance in Japan.

Noguchi A, Nakamura K, Murayama K, Yamamoto S, Komatsu H, Kizu R, Takayanagi M, Okuyama T, Endo F, Takasago Y, Shoji Y, Takahashi T. Noguchi A, et al. Among authors: nakamura k. Pediatr Int. 2016 Oct;58(10):979-983. doi: 10.1111/ped.12946. Epub 2016 Jun 8. Pediatr Int. 2016. PMID: 26865117

5

Management of Confirmed Newborn-Screened Patients With Pompe Disease Across the Disease Spectrum.

Kronn DF, Day-Salvatore D, Hwu WL, Jones SA, Nakamura K, Okuyama T, Swoboda KJ, Kishnani PS; Pompe Disease Newborn Screening Working Group. Kronn DF, et al. Among authors: nakamura k. Pediatrics. 2017 Jul;140(Suppl 1):S24-S45. doi: 10.1542/peds.2016-0280E. Pediatrics. 2017. PMID: 29162675

6

Pharmacokinetics and pharmacodynamics of JR-051, a biosimilar of agalsidase beta, in healthy adults and patients with Fabry disease: Phase I and II/III clinical studies.

Nakamura K, Kawashima S, Tozawa H, Yamaoka M, Yamamoto T, Tanaka N, Yamamoto R, Okuyama T, Eto Y. Nakamura K, et al. Mol Genet Metab. 2020 Jul;130(3):215-224. doi: 10.1016/j.ymgme.2020.04.003. Epub 2020 May 1. Mol Genet Metab. 2020. PMID: 32389574 Free article. Clinical Trial.

7

A Phase 2/3 Trial of Pabinafusp Alfa, IDS Fused with Anti-Human Transferrin Receptor Antibody, Targeting Neurodegeneration in MPS-II.

Okuyama T, Eto Y, Sakai N, Nakamura K, Yamamoto T, Yamaoka M, Ikeda T, So S, Tanizawa K, Sonoda H, Sato Y. Okuyama T, et al. Among authors: nakamura k. Mol Ther. 2021 Feb 3;29(2):671-679. doi: 10.1016/j.ymthe.2020.09.039. Epub 2020 Sep 30. Mol Ther. 2021. PMID: 33038326 Free PMC article. Clinical Trial.

8

Physical, cognitive, and social status of patients with urea cycle disorders in Japan.

Kido J, Matsumoto S, Ito T, Hirose S, Fukui K, Kojima-Ishii K, Mushimoto Y, Yoshida S, Ishige M, Sakai N, Nakamura K. Kido J, et al. Among authors: nakamura k. Mol Genet Metab Rep. 2021 Feb 7;27:100724. doi: 10.1016/j.ymgmr.2021.100724. eCollection 2021 Jun. Mol Genet Metab Rep. 2021. PMID: 33614409 Free PMC article.

9

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: nakamura y, nakamura k. 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

10

Guide for diagnosis and treatment of hyperphenylalaninemia.

Shintaku H, Ohura T, Takayanagi M, Kure S, Owada M, Matsubara Y, Yoshino M, Okano Y, Ito T, Okuyama T, Nakamura K, Matuo M, Endo F, Ida H. Shintaku H, et al. Among authors: nakamura k. Pediatr Int. 2021 Jan;63(1):8-12. doi: 10.1111/ped.14399. Epub 2021 Jan 10. Pediatr Int. 2021. PMID: 33423362

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