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Page 1
Phenotypic and genetic spectra of galactose mutarotase deficiency: A nationwide survey conducted in Japan.
Mikami-Saito Y, Wada Y, Arai-Ichinoi N, Nakajima Y, Suzuki-Ajihara S, Murayama K, Tanaka T, Numakura C, Hamazaki T, Igarashi N, Esaki H, Kagawa R, Kono T, Sawada T, Sawada T, Nyuzuki H, Hirai H, Fumoto S, Matsuda J, Matsunaga A, Maruyama S, Yamaguchi K, Yoshino M, Totsune E, Kikuchi A, Ohura T, Kure S. Mikami-Saito Y, et al. Among authors: kagawa r. Genet Med. 2024 Aug;26(8):101165. doi: 10.1016/j.gim.2024.101165. Epub 2024 May 16. Genet Med. 2024. PMID: 38762772 Free article.
Blood glucose trends in glycogen storage disease type Ia: A cross-sectional study.
Fukuda T, Ito T, Hamazaki T, Inui A, Ishige M, Kagawa R, Sakai N, Watanabe Y, Kobayashi H, Wasaki Y, Taura J, Imamura Y, Tsukiuda T, Nakamura K. Fukuda T, et al. Among authors: kagawa r. J Inherit Metab Dis. 2023 Jul;46(4):618-633. doi: 10.1002/jimd.12610. Epub 2023 Jun 14. J Inherit Metab Dis. 2023. PMID: 37114839
Growth Hormone Injection Log Analysis with Electronic Injection Device for Qualifying Adherence to Low-Irritant Formulation and Exploring Influential Factors on Adherence.
Takasawa K, Mabe H, Nagamatsu F, Amano N, Miyakawa Y, Sutani A, Kagawa R, Okada S, Tanahashi Y, Suzuki S, Hiroshima S, Nagasaki K, Dateki S, Takishima S, Takahashi I, Kashimada K. Takasawa K, et al. Among authors: kagawa r. Patient Prefer Adherence. 2023 Aug 1;17:1885-1894. doi: 10.2147/PPA.S417142. eCollection 2023. Patient Prefer Adherence. 2023. PMID: 37545653 Free PMC article.
Using the C14:1/Medium-Chain Acylcarnitine Ratio Instead of C14:1 to Reduce False-Positive Results for Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency in Newborn Screening in Japan.
Tajima G, Aisaki J, Hara K, Tsumura M, Kagawa R, Sakura F, Sasai H, Yuasa M, Shigematsu Y, Okada S. Tajima G, et al. Among authors: kagawa r. Int J Neonatal Screen. 2024 Feb 20;10(1):15. doi: 10.3390/ijns10010015. Int J Neonatal Screen. 2024. PMID: 38390979 Free PMC article.
Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency.
Utsumi T, Tsumura M, Yashiro M, Kato Z, Noma K, Sakura F, Kagawa R, Mizoguchi Y, Karakawa S, Ohnishi H, Cunningham-Rundles C, Arkwright PD, Kobayashi M, Kanegane H, Bogunovic D, Boisson B, Casanova JL, Asano T, Okada S. Utsumi T, et al. Among authors: kagawa r. J Clin Immunol. 2024 Jul 29;44(7):167. doi: 10.1007/s10875-024-01758-x. J Clin Immunol. 2024. PMID: 39073655 Free PMC article.
Correction to: Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency.
Utsumi T, Tsumura M, Yashiro M, Kato Z, Noma K, Sakura F, Kagawa R, Mizoguchi Y, Karakawa S, Ohnishi H, Cunningham-Rundles C, Arkwright PD, Kobayashi M, Kanegane H, Bogunovic D, Boisson B, Casanova JL, Asano T, Okada S. Utsumi T, et al. Among authors: kagawa r. J Clin Immunol. 2024 Aug 15;44(8):178. doi: 10.1007/s10875-024-01785-8. J Clin Immunol. 2024. PMID: 39143376 Free PMC article. No abstract available.
155 results