Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

1,377 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance.
Akyol MU, Alden TD, Amartino H, Ashworth J, Belani K, Berger KI, Borgo A, Braunlin E, Eto Y, Gold JI, Jester A, Jones SA, Karsli C, Mackenzie W, Marinho DR, McFadyen A, McGill J, Mitchell JJ, Muenzer J, Okuyama T, Orchard PJ, Stevens B, Thomas S, Walker R, Wynn R, Giugliani R, Harmatz P, Hendriksz C, Scarpa M; MPS Consensus Programme Steering Committee; MPS Consensus Programme Co-Chairs. Akyol MU, et al. Among authors: okuyama t. Orphanet J Rare Dis. 2019 May 29;14(1):118. doi: 10.1186/s13023-019-1080-y. Orphanet J Rare Dis. 2019. PMID: 31142378 Free PMC article.
Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance.
Akyol MU, Alden TD, Amartino H, Ashworth J, Belani K, Berger KI, Borgo A, Braunlin E, Eto Y, Gold JI, Jester A, Jones SA, Karsli C, Mackenzie W, Marinho DR, McFadyen A, McGill J, Mitchell JJ, Muenzer J, Okuyama T, Orchard PJ, Stevens B, Thomas S, Walker R, Wynn R, Giugliani R, Harmatz P, Hendriksz C, Scarpa M; MPS Consensus Programme Steering Committee; MPS Consensus Programme Co-Chairs. Akyol MU, et al. Among authors: okuyama t. Orphanet J Rare Dis. 2019 Jun 13;14(1):137. doi: 10.1186/s13023-019-1074-9. Orphanet J Rare Dis. 2019. PMID: 31196221 Free PMC article.
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: okuyama t. Int J Mol Sci. 2021 Oct 10;22(20):10938. doi: 10.3390/ijms222010938. Int J Mol Sci. 2021. PMID: 34681597 Free PMC article.
Identifying the need for a multidisciplinary approach for early recognition of mucopolysaccharidosis VI (MPS VI).
Choy YS, Bhattacharya K, Balasubramaniam S, Fietz M, Fu A, Inwood A, Jin DK, Kim OH, Kosuga M, Kwun YH, Lin HY, Lin SP, Mendelsohn NJ, Okuyama T, Samion H, Tan A, Tanaka A, Thamkunanon V, Thong MK, Toh TH, Yang AD, McGill J. Choy YS, et al. Among authors: okuyama t. Mol Genet Metab. 2015 May;115(1):41-7. doi: 10.1016/j.ymgme.2015.03.005. Epub 2015 Mar 26. Mol Genet Metab. 2015. PMID: 25892708
Paternal UPD14 is responsible for a distinctive malformation complex.
Kurosawa K, Sasaki H, Sato Y, Yamanaka M, Shimizu M, Ito Y, Okuyama T, Matsuo M, Imaizumi K, Kuroki Y, Nishimura G. Kurosawa K, et al. Among authors: okuyama t. Am J Med Genet. 2002 Jul 1;110(3):268-72. doi: 10.1002/ajmg.10404. Am J Med Genet. 2002. PMID: 12116236
1,377 results