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Biallelic GALM pathogenic variants cause a novel type of galactosemia.
Wada Y, Kikuchi A, Arai-Ichinoi N, Sakamoto O, Takezawa Y, Iwasawa S, Niihori T, Nyuzuki H, Nakajima Y, Ogawa E, Ishige M, Hirai H, Sasai H, Fujiki R, Shirota M, Funayama R, Yamamoto M, Ito T, Ohara O, Nakayama K, Aoki Y, Koshiba S, Fukao T, Kure S. Wada Y, et al. Genet Med. 2019 Jun;21(6):1286-1294. doi: 10.1038/s41436-018-0340-x. Epub 2018 Oct 19. Genet Med. 2019. PMID: 30451973 Free article.
Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice.
Wada Y, Kikuchi A, Kaga A, Shimizu N, Ito J, Onuma R, Fujishima F, Totsune E, Sato R, Niihori T, Shirota M, Funayama R, Sato K, Nakazawa T, Nakayama K, Aoki Y, Aiba S, Nakagawa K, Kure S. Wada Y, et al. PLoS Genet. 2020 Feb 26;16(2):e1008628. doi: 10.1371/journal.pgen.1008628. eCollection 2020 Feb. PLoS Genet. 2020. PMID: 32101538 Free PMC article.
Correction: Biallelic GALM pathogenic variants cause a novel type of galactosemia.
Wada Y, Kikuchi A, Arai-Ichinoi N, Sakamoto O, Takezawa Y, Iwasawa S, Niihori T, Nyuzuki H, Nakajima Y, Ogawa E, Ishige M, Hirai H, Sasai H, Fujiki R, Shirota M, Funayama R, Yamamoto M, Ito T, Ohara O, Nakayama K, Aoki Y, Koshiba S, Fukao T, Kure S. Wada Y, et al. Genet Med. 2020 Jul;22(7):1281. doi: 10.1038/s41436-020-0836-z. Genet Med. 2020. PMID: 32499603 Free article.
Gingival Pigmentation in a Boy.
Nakagawa T, Wada Y, Miura A, Numata-Uematsu Y, Niizuma H, Kure S. Nakagawa T, et al. Among authors: wada y. J Pediatr. 2021 Jul;234:274-275. doi: 10.1016/j.jpeds.2021.03.052. Epub 2021 Mar 29. J Pediatr. 2021. PMID: 33794216 No abstract available.
3,723 results