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

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Page 1
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.
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.
Tailoring the AAV2 capsid vector for bone-targeting.
Alméciga-Díaz CJ, Montaño AM, Barrera LA, Tomatsu S. Alméciga-Díaz CJ, et al. Pediatr Res. 2018 Oct;84(4):545-551. doi: 10.1038/s41390-018-0095-8. Epub 2018 Oct 15. Pediatr Res. 2018. PMID: 30323349 Free PMC article.
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.
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.
36 results