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Digenic mutations in ALDH2 and ADH5 impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome.
Oka Y, Hamada M, Nakazawa Y, Muramatsu H, Okuno Y, Higasa K, Shimada M, Takeshima H, Hanada K, Hirano T, Kawakita T, Sakaguchi H, Ichimura T, Ozono S, Yuge K, Watanabe Y, Kotani Y, Yamane M, Kasugai Y, Tanaka M, Suganami T, Nakada S, Mitsutake N, Hara Y, Kato K, Mizuno S, Miyake N, Kawai Y, Tokunaga K, Nagasaki M, Kito S, Isoyama K, Onodera M, Kaneko H, Matsumoto N, Matsuda F, Matsuo K, Takahashi Y, Mashimo T, Kojima S, Ogi T. Oka Y, et al. Among authors: kojima s. Sci Adv. 2020 Dec 18;6(51):eabd7197. doi: 10.1126/sciadv.abd7197. Print 2020 Dec. Sci Adv. 2020. PMID: 33355142 Free PMC article.
[Anemia in children].
Muramatsu H, Kojima S. Muramatsu H, et al. Among authors: kojima s. Nihon Rinsho. 2008 Mar;66(3):544-7. Nihon Rinsho. 2008. PMID: 18326324 Review. Japanese.
Risk factors for early death in neonates with Down syndrome and transient leukaemia.
Muramatsu H, Kato K, Watanabe N, Matsumoto K, Nakamura T, Horikoshi Y, Mimaya J, Suzuki C, Hayakawa M, Kojima S. Muramatsu H, et al. Among authors: kojima s. Br J Haematol. 2008 Aug;142(4):610-5. doi: 10.1111/j.1365-2141.2008.07231.x. Epub 2008 May 28. Br J Haematol. 2008. PMID: 18510680 Free article.
Correlation of clinical features with the mutational status of GM-CSF signaling pathway-related genes in juvenile myelomonocytic leukemia.
Yoshida N, Yagasaki H, Xu Y, Matsuda K, Yoshimi A, Takahashi Y, Hama A, Nishio N, Muramatsu H, Watanabe N, Matsumoto K, Kato K, Ueyama J, Inada H, Goto H, Yabe M, Kudo K, Mimaya J, Kikuchi A, Manabe A, Koike K, Kojima S. Yoshida N, et al. Among authors: kojima s. Pediatr Res. 2009 Mar;65(3):334-40. doi: 10.1203/PDR.0b013e3181961d2a. Pediatr Res. 2009. PMID: 19047918
Concurrent Langerhans cell histiocytosis and nephroblastoma.
Narui R, Yagasaki H, Takahashi Y, Hama A, Nishio N, Muramatsu H, Shimoyama Y, Kojima S. Narui R, et al. Among authors: kojima s. Pediatr Blood Cancer. 2009 May;52(5):662-4. doi: 10.1002/pbc.21927. Pediatr Blood Cancer. 2009. PMID: 19148948
3,333 results