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Newborn screening for Fabry disease in the western region of Japan.
Sawada T, Kido J, Yoshida S, Sugawara K, Momosaki K, Inoue T, Tajima G, Sawada H, Mastumoto S, Endo F, Hirose S, Nakamura K. Sawada T, et al. Among authors: endo f. Mol Genet Metab Rep. 2020 Jan 11;22:100562. doi: 10.1016/j.ymgmr.2019.100562. eCollection 2020 Mar. Mol Genet Metab Rep. 2020. PMID: 31956509 Free PMC article.
Current status of newborn screening for Pompe disease in Japan.
Sawada T, Kido J, Sugawara K, Momosaki K, Yoshida S, Kojima-Ishii K, Inoue T, Matsumoto S, Endo F, Ohga S, Hirose S, Nakamura K. Sawada T, et al. Among authors: endo f. Orphanet J Rare Dis. 2021 Dec 18;16(1):516. doi: 10.1186/s13023-021-02146-z. Orphanet J Rare Dis. 2021. PMID: 34922579 Free PMC article.
Newborn screening for Gaucher disease in Japan.
Sawada T, Kido J, Sugawara K, Yoshida S, Matsumoto S, Shimazu T, Matsushita Y, Inoue T, Hirose S, Endo F, Nakamura K. Sawada T, et al. Among authors: endo f. Mol Genet Metab Rep. 2022 Feb 18;31:100850. doi: 10.1016/j.ymgmr.2022.100850. eCollection 2022 Jun. Mol Genet Metab Rep. 2022. PMID: 35242582 Free PMC article.
Newborn screening for lysosomal storage disorders.
Nakamura K, Hattori K, Endo F. Nakamura K, et al. Among authors: endo f. Am J Med Genet C Semin Med Genet. 2011 Feb 15;157C(1):63-71. doi: 10.1002/ajmg.c.30291. Epub 2011 Feb 10. Am J Med Genet C Semin Med Genet. 2011. PMID: 21312327 Review.
448 results