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Early and presymptomatic detection of Wilson's disease at the mandatory 3-year-old medical health care examination in Hokkaido Prefecture with the use of a novel automated urinary ceruloplasmin assay.
Nakayama K, Kubota M, Katoh Y, Sawada Y, Saito A, Nishimura K, Katsura E, Ichihara N, Suzuki T, Kouguchi H, Tamura M, Honma H, Kanzaki S, Itami H, Ohtake A, Kobayashi K, Ariga T, Fujieda K, Shimizu N, Aoki T. Nakayama K, et al. Among authors: kobayashi k. Mol Genet Metab. 2008 Jul;94(3):363-7. doi: 10.1016/j.ymgme.2008.03.002. Epub 2008 Apr 18. Mol Genet Metab. 2008. PMID: 18424137
Refractory sacrococcygeal germ cell tumor in Schinzel-Giedion syndrome.
Kishimoto K, Kobayashi R, Yonemaru N, Yamamoto H, Tsujioka T, Sano H, Suzuki D, Yasuda K, Suzuki M, Ando A, Tonoki H, Iizuka S, Uetake K, Kobayashi K. Kishimoto K, et al. Among authors: kobayashi k, kobayashi r. J Pediatr Hematol Oncol. 2015 May;37(4):e238-41. doi: 10.1097/MPH.0000000000000236. J Pediatr Hematol Oncol. 2015. PMID: 25171454
A deep intronic mutation of c.1166-285 T > G in SLC46A1 is shared by four unrelated Japanese patients with hereditary folate malabsorption (HFM).
Tozawa Y, Abdrabou SSMA, Nogawa-Chida N, Nishiuchi R, Ishida T, Suzuki Y, Sano H, Kobayashi R, Kishimoto K, Ohara O, Imai K, Naruto T, Kobayashi K, Ariga T, Yamada M. Tozawa Y, et al. Among authors: kobayashi k, kobayashi r. Clin Immunol. 2019 Nov;208:108256. doi: 10.1016/j.clim.2019.108256. Epub 2019 Sep 5. Clin Immunol. 2019. PMID: 31494288
Human metapneumovirus infection in Japanese children.
Ebihara T, Endo R, Kikuta H, Ishiguro N, Ishiko H, Hara M, Takahashi Y, Kobayashi K. Ebihara T, et al. Among authors: kobayashi k. J Clin Microbiol. 2004 Jan;42(1):126-32. doi: 10.1128/JCM.42.1.126-132.2004. J Clin Microbiol. 2004. PMID: 14715742 Free PMC article.
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