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The landscape of CRISPR/Cas9 for inborn errors of metabolism.
Leal AF, Fnu N, Benincore-Flórez E, Herreño-Pachón AM, Echeverri-Peña OY, Alméciga-Díaz CJ, Tomatsu S. Leal AF, et al. Among authors: tomatsu s. Mol Genet Metab. 2023 Jan;138(1):106968. doi: 10.1016/j.ymgme.2022.106968. Epub 2022 Dec 7. Mol Genet Metab. 2023. PMID: 36525790 Free PMC article. Review.
Newborn screening and diagnosis of mucopolysaccharidoses.
Tomatsu S, Fujii T, Fukushi M, Oguma T, Shimada T, Maeda M, Kida K, Shibata Y, Futatsumori H, Montaño AM, Mason RW, Yamaguchi S, Suzuki Y, Orii T. Tomatsu S, et al. Mol Genet Metab. 2013 Sep-Oct;110(1-2):42-53. doi: 10.1016/j.ymgme.2013.06.007. Epub 2013 Jun 21. Mol Genet Metab. 2013. PMID: 23860310 Free PMC article. Review.
Therapies of mucopolysaccharidosis IVA (Morquio A syndrome).
Tomatsu S, Alméciga-Díaz CJ, Barbosa H, Montaño AM, Barrera LA, Shimada T, Yasuda E, Mackenzie WG, Mason RW, Suzuki Y, Orii KE, Orii T. Tomatsu S, et al. Expert Opin Orphan Drugs. 2013 Oct 1;1(10):805-818. doi: 10.1517/21678707.2013.846853. Expert Opin Orphan Drugs. 2013. PMID: 25419501 Free PMC article.
Activities of daily living in patients with Hunter syndrome: impact of enzyme replacement therapy and hematopoietic stem cell transplantation.
Tanjuakio J, Suzuki Y, Patel P, Yasuda E, Kubaski F, Tanaka A, Yabe H, Mason RW, Montaño AM, Orii KE, Orii KO, Fukao T, Orii T, Tomatsu S. Tanjuakio J, et al. Among authors: tomatsu s. Mol Genet Metab. 2015 Feb;114(2):161-9. doi: 10.1016/j.ymgme.2014.11.002. Epub 2014 Nov 8. Mol Genet Metab. 2015. PMID: 25468646 Free PMC article.
Therapies for the bone in mucopolysaccharidoses.
Tomatsu S, Alméciga-Díaz CJ, Montaño AM, Yabe H, Tanaka A, Dung VC, Giugliani R, Kubaski F, Mason RW, Yasuda E, Sawamoto K, Mackenzie W, Suzuki Y, Orii KE, Barrera LA, Sly WS, Orii T. Tomatsu S, et al. Mol Genet Metab. 2015 Feb;114(2):94-109. doi: 10.1016/j.ymgme.2014.12.001. Epub 2014 Dec 9. Mol Genet Metab. 2015. PMID: 25537451 Free PMC article. Review.
Molecular Genetics and Metabolism Report Long-term follow-up of post hematopoietic stem cell transplantation for Hurler syndrome: clinical, biochemical, and pathological improvements.
Yasuda E, Mackenzie W, Ruhnke K, Shimada T, Mason RW, Zustin J, Martin PL, Thacker M, Orii T, Sai Y, Tomatsu S. Yasuda E, et al. Among authors: tomatsu s. Mol Genet Metab Rep. 2015 Mar;2:65-76. doi: 10.1016/j.ymgmr.2014.12.006. Mol Genet Metab Rep. 2015. PMID: 25709894 Free PMC article.
286 results