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Progressive myoclonic epilepsy as an expanding phenotype of NGLY1-associated congenital deglycosylation disorder: A case report and review of the literature.
Sonoda Y, Fujita A, Torio M, Mukaino T, Sakata A, Matsukura M, Yonemoto K, Hatae K, Ichimiya Y, Chong PF, Ochiai M, Wada Y, Kadoya M, Okamoto N, Murakami Y, Suzuki T, Isobe N, Shigeto H, Matsumoto N, Sakai Y, Ohga S. Sonoda Y, et al. Eur J Med Genet. 2024 Feb;67:104895. doi: 10.1016/j.ejmg.2023.104895. Epub 2023 Dec 7. Eur J Med Genet. 2024. PMID: 38070824 Free article. Review.
A Child with Prostaglandin I2-associated Thyrotoxicosis: Case Report.
Sonoda Y, Yamamura K, Ishii K, Ohkubo K, Ihara K, Sakai Y, Ohga S. Sonoda Y, et al. J Clin Res Pediatr Endocrinol. 2019 May 28;11(2):207-210. doi: 10.4274/jcrpe.galenos.2018.2018.0169. Epub 2018 Oct 16. J Clin Res Pediatr Endocrinol. 2019. PMID: 30325337 Free PMC article.
Possible association between early formula and reduced risk of cow's milk allergy: The Japan Environment and Children's Study.
Tezuka J, Sanefuji M, Ninomiya T, Kawahara T, Matsuzaki H, Sonoda Y, Ogawa M, Shimono M, Suga R, Honjo S, Kusuhara K, Ohga S; Japan Environment, Children’s Study (JECS) Group. Tezuka J, et al. Among authors: sonoda y. Clin Exp Allergy. 2021 Jan;51(1):99-107. doi: 10.1111/cea.13761. Epub 2020 Oct 25. Clin Exp Allergy. 2021. PMID: 33053241 Free PMC article.
De novo ATP1A3 variants cause polymicrogyria.
Miyatake S, Kato M, Kumamoto T, Hirose T, Koshimizu E, Matsui T, Takeuchi H, Doi H, Hamada K, Nakashima M, Sasaki K, Yamashita A, Takata A, Hamanaka K, Satoh M, Miyama T, Sonoda Y, Sasazuki M, Torisu H, Hara T, Sakai Y, Noguchi Y, Miura M, Nishimura Y, Nakamura K, Asai H, Hinokuma N, Miya F, Tsunoda T, Togawa M, Ikeda Y, Kimura N, Amemiya K, Horino A, Fukuoka M, Ikeda H, Merhav G, Ekhilevitch N, Miura M, Mizuguchi T, Miyake N, Suzuki A, Ohga S, Saitsu H, Takahashi H, Tanaka F, Ogata K, Ohtaka-Maruyama C, Matsumoto N. Miyatake S, et al. Among authors: sonoda y. Sci Adv. 2021 Mar 24;7(13):eabd2368. doi: 10.1126/sciadv.abd2368. Print 2021 Mar. Sci Adv. 2021. PMID: 33762331 Free PMC article.
942 results