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702 results

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Page 1
Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity.
Tajima G, Hara K, Tsumura M, Kagawa R, Okada S, Sakura N, Maruyama S, Noguchi A, Awaya T, Ishige M, Ishige N, Musha I, Ajihara S, Ohtake A, Naito E, Hamada Y, Kono T, Asada T, Sasai H, Fukao T, Fujiki R, Ohara O, Bo R, Yamada K, Kobayashi H, Hasegawa Y, Yamaguchi S, Takayanagi M, Hata I, Shigematsu Y, Kobayashi M. Tajima G, et al. Among authors: noguchi a. Mol Genet Metab. 2017 Nov;122(3):67-75. doi: 10.1016/j.ymgme.2017.07.011. Epub 2017 Jul 31. Mol Genet Metab. 2017. PMID: 28801073
Five novel SLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance.
Shoji Y, Noguchi A, Shoji Y, Matsumori M, Takasago Y, Takayanagi M, Yoshida Y, Ihara K, Hara T, Yamaguchi S, Yoshino M, Kaji M, Yamamoto S, Nakai A, Koizumi A, Hokezu Y, Nagamatsu K, Mikami H, Kitajima I, Takada G. Shoji Y, et al. Among authors: noguchi a. Hum Mutat. 2002 Nov;20(5):375-81. doi: 10.1002/humu.10140. Hum Mutat. 2002. PMID: 12402335
Clinical Features, Molecular Genetics, and Long-Term Outcome in Congenital Chloride Diarrhea: A Nationwide Study in Japan.
Konishi KI, Mizuochi T, Yanagi T, Watanabe Y, Ohkubo K, Ohga S, Maruyama H, Takeuchi I, Sekine Y, Masuda K, Kikuchi N, Yotsumoto Y, Ohtsuka Y, Tanaka H, Kudo T, Noguchi A, Fuwa K, Mushiake S, Ida S, Fujishiro J, Yamashita Y, Taguchi T, Yamamoto K. Konishi KI, et al. Among authors: noguchi a. J Pediatr. 2019 Nov;214:151-157.e6. doi: 10.1016/j.jpeds.2019.07.039. Epub 2019 Aug 30. J Pediatr. 2019. PMID: 31477378
The association of periodic paralysis and hyperthyroidism in Japan.
OKINAKA S, SHIZUME K, IINO S, WATANABE A, IRIE M, NOGUCHI A, KUMA S, KUMA K, ITO T. OKINAKA S, et al. Among authors: noguchi a. J Clin Endocrinol Metab. 1957 Dec;17(12):1454-9. doi: 10.1210/jcem-17-12-1454. J Clin Endocrinol Metab. 1957. PMID: 13481091 No abstract available.
702 results