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737 results

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Page 1
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. Among authors: ohkubo k. 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.
Sustained endocrine profiles of a girl with WAGR syndrome.
Takada Y, Sakai Y, Matsushita Y, Ohkubo K, Koga Y, Akamine S, Torio M, Ishizaki Y, Sanefuji M, Torisu H, Shaw CA, Kagami M, Hara T, Ohga S. Takada Y, et al. Among authors: ohkubo k. BMC Med Genet. 2017 Oct 23;18(1):117. doi: 10.1186/s12881-017-0477-5. BMC Med Genet. 2017. PMID: 29061165 Free PMC article.
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. Among authors: ohkubo k. 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.
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: ohkubo k. 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.
A male case with CDKL5-associated encephalopathy manifesting transient methylmalonic acidemia.
Akamine S, Ishizaki Y, Sakai Y, Torisu H, Fukai R, Miyake N, Ohkubo K, Koga H, Sanefuji M, Sakata A, Kimura M, Yamaguchi S, Sakamoto O, Hara T, Saitsu H, Matsumoto N, Ohga S. Akamine S, et al. Among authors: ohkubo k. Eur J Med Genet. 2018 Aug;61(8):451-454. doi: 10.1016/j.ejmg.2018.03.003. Epub 2018 Mar 3. Eur J Med Genet. 2018. PMID: 29510241
737 results