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Year Number of Results
2012 1
2013 2
2014 8
2015 6
2016 9
2017 9
2018 4
2020 1
2021 3
2022 2
2024 0

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36 results

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Page 1
Epidemiology of mucopolysaccharidoses.
Khan SA, Peracha H, Ballhausen D, Wiesbauer A, Rohrbach M, Gautschi M, Mason RW, Giugliani R, Suzuki Y, Orii KE, Orii T, Tomatsu S. Khan SA, et al. Mol Genet Metab. 2017 Jul;121(3):227-240. doi: 10.1016/j.ymgme.2017.05.016. Epub 2017 May 26. Mol Genet Metab. 2017. PMID: 28595941 Free PMC article.
Gene therapy for Mucopolysaccharidoses.
Sawamoto K, Chen HH, Alméciga-Díaz CJ, Mason RW, Tomatsu S. Sawamoto K, et al. Mol Genet Metab. 2018 Feb;123(2):59-68. doi: 10.1016/j.ymgme.2017.12.434. Epub 2017 Dec 26. Mol Genet Metab. 2018. PMID: 29295764 Free PMC article. Review.
Mucopolysaccharidosis IVA and glycosaminoglycans.
Khan S, Alméciga-Díaz CJ, Sawamoto K, Mackenzie WG, Theroux MC, Pizarro C, Mason RW, Orii T, Tomatsu S. Khan S, et al. Mol Genet Metab. 2017 Jan-Feb;120(1-2):78-95. doi: 10.1016/j.ymgme.2016.11.007. Epub 2016 Nov 29. Mol Genet Metab. 2017. PMID: 27979613 Free PMC article. Review.
Glycosaminoglycans detection methods: Applications of mass spectrometry.
Kubaski F, Osago H, Mason RW, Yamaguchi S, Kobayashi H, Tsuchiya M, Orii T, Tomatsu S. Kubaski F, et al. Mol Genet Metab. 2017 Jan-Feb;120(1-2):67-77. doi: 10.1016/j.ymgme.2016.09.005. Epub 2016 Sep 28. Mol Genet Metab. 2017. PMID: 27746032 Free PMC article. Review.
Newborn screening of mucopolysaccharidoses: past, present, and future.
Arunkumar N, Langan TJ, Stapleton M, Kubaski F, Mason RW, Singh R, Kobayashi H, Yamaguchi S, Suzuki Y, Orii K, Orii T, Fukao T, Tomatsu S. Arunkumar N, et al. J Hum Genet. 2020 Jul;65(7):557-567. doi: 10.1038/s10038-020-0744-8. Epub 2020 Apr 10. J Hum Genet. 2020. PMID: 32277174 Review.
Molecular genetics and metabolism, special edition: Diagnosis, diagnosis and prognosis of Mucopolysaccharidosis IVA.
Peracha H, Sawamoto K, Averill L, Kecskemethy H, Theroux M, Thacker M, Nagao K, Pizarro C, Mackenzie W, Kobayashi H, Yamaguchi S, Suzuki Y, Orii K, Orii T, Fukao T, Tomatsu S. Peracha H, et al. Mol Genet Metab. 2018 Sep;125(1-2):18-37. doi: 10.1016/j.ymgme.2018.05.004. Epub 2018 May 15. Mol Genet Metab. 2018. PMID: 29779902 Free PMC article. Review.
Establishment of glycosaminoglycan assays for mucopolysaccharidoses.
Tomatsu S, Shimada T, Mason RW, Montaño AM, Kelly J, LaMarr WA, Kubaski F, Giugliani R, Guha A, Yasuda E, Mackenzie W, Yamaguchi S, Suzuki Y, Orii T. Tomatsu S, et al. Metabolites. 2014 Aug 11;4(3):655-79. doi: 10.3390/metabo4030655. Metabolites. 2014. PMID: 25116756 Free PMC article. Review.
Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA.
Hendriksz CJ, Harmatz P, Beck M, Jones S, Wood T, Lachman R, Gravance CG, Orii T, Tomatsu S. Hendriksz CJ, et al. Mol Genet Metab. 2013 Sep-Oct;110(1-2):54-64. doi: 10.1016/j.ymgme.2013.04.002. Epub 2013 Apr 10. Mol Genet Metab. 2013. PMID: 23665161 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.
A Roadmap for Potential Improvement of Newborn Screening for Inherited Metabolic Diseases Following Recent Developments and Successful Applications of Bivariate Normal Limits for Pre-Symptomatic Detection of MPS I, Pompe Disease, and Krabbe Disease.
Jalal K, Carter RL, Barczykowski A, Tomatsu S, Langan TJ. Jalal K, et al. Int J Neonatal Screen. 2022 Nov 15;8(4):61. doi: 10.3390/ijns8040061. Int J Neonatal Screen. 2022. PMID: 36412587 Free PMC article. Review.
36 results