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Reappraising newborn screening for cobalamin C disorder.
Tocan V, Ohkubo K, Higashi K, Toda N, Kojima-Ishii K, Nishiyama K, Ishimura M, Takada H, Sakamoto O, Sasaki F, Yoshimura K, Hirose S, Ohga S. Tocan V, et al. Pediatr Neonatol. 2018 Aug;59(4):415-417. doi: 10.1016/j.pedneo.2017.11.002. Epub 2017 Nov 22. Pediatr Neonatol. 2018. PMID: 29198615 Free article. No abstract available.
The expanding phenotype of hypokalemic periodic paralysis in a Japanese family with p.Val876Glu mutation in CACNA1S.
Kurokawa M, Torio M, Ohkubo K, Tocan V, Ohyama N, Toda N, Ishii K, Nishiyama K, Mushimoto Y, Sakamoto R, Nakaza M, Horie R, Kubota T, Takahashi MP, Sakai Y, Nomura M, Ohga S. Kurokawa M, et al. Among authors: tocan v. Mol Genet Genomic Med. 2020 Apr;8(4):e1175. doi: 10.1002/mgg3.1175. Epub 2020 Feb 27. Mol Genet Genomic Med. 2020. PMID: 32104981 Free PMC article.
Physical growth and neurodevelopment during the first year of life: a cohort study of the Japan Environment and Children's Study.
Sanefuji M, Sonoda Y, Ito Y, Ogawa M, Tocan V, Inoue H, Ochiai M, Shimono M, Suga R, Senju A, Honjo S, Kusuhara K, Ohga S; Japan Environment and Children’s Study Group. Sanefuji M, et al. Among authors: tocan v. BMC Pediatr. 2021 Aug 25;21(1):360. doi: 10.1186/s12887-021-02815-9. BMC Pediatr. 2021. PMID: 34433439 Free PMC article.
High-Titer Anti-ZSCAN1 Antibodies in a Toddler Clinically Diagnosed with Apparent Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Syndrome.
Tocan V, Nakamura-Utsunomiya A, Sonoda Y, Matsuoka W, Mizuguchi S, Muto Y, Hijioka T, Nogami M, Sasaoka D, Nagamatsu F, Oba U, Kawakubo N, Hamada H, Mushimoto Y, Chong PF, Kaku N, Koga Y, Sakai Y, Oda Y, Tajiri T, Ohga S. Tocan V, et al. Int J Mol Sci. 2024 Feb 29;25(5):2820. doi: 10.3390/ijms25052820. Int J Mol Sci. 2024. PMID: 38474067 Free PMC article.
Rapid and long-lasting efficacy of high-dose ambroxol therapy for neuronopathic Gaucher disease: A case report and literature review.
Higashi K, Sonoda Y, Kaku N, Fujii F, Yamashita F, Lee S, Tocan V, Ebihara G, Matsuoka W, Tetsuhara K, Sonoda M, Chong PF, Mushimoto Y, Kojima-Ishii K, Ishimura M, Koga Y, Fukuta A, Tsuchihashi NA, Kikuchi Y, Karashima T, Sawada T, Hotta T, Yoshimitsu M, Terazono H, Tajiri T, Nakagawa T, Sakai Y, Nakamura K, Ohga S. Higashi K, et al. Among authors: tocan v. Mol Genet Genomic Med. 2024 Apr;12(4):e2427. doi: 10.1002/mgg3.2427. Mol Genet Genomic Med. 2024. PMID: 38553911 Free PMC article. Review.
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