原著2021年

Kimura A, Mizuochi T, Takei H, Ohtake A, Mori J, Shinoda K, Hashimoto T, Kasahara M, Togawa T, Murai T, Iida T, Nittono H. Bile Acid Synthesis Disorders in Japan: Long-Term Outcome and Chenodeoxycholic Acid Treatment Dig Dis Sci. Online ahead of print.
Hori I, Ieda D, Ito S, Ebe S, Nakamura Y, Ohashi K, Aoyama K, Hattori A, Kokubo M, Saitoh S.  Peripheral nerves are involved in hypomyelinating leukodystrophy-3 caused by a homozygous AIMP1 variant. Brain Dev. 43(4):590-595; 2021
Ohashi K, Fukuhara S, Miyachi T, Asai T, Imaeda M, Goto M, Kurokawa Y, Anzai T, Tsurusaki Y, Miyake N, Matsumoto N, Yamagata T, Saitoh S. Comprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical Settings. J Autism Dev Disord. 2021 Feb 15. Epub ahead of print
Negishi Y, Aoki Y, Itomi K, Yasuda K, Taniguchi H, Ishida A, Arakawa T, Miyamoto S, Nakashima M, Saitsu H, Saitoh S. SCN8A-related developmental and epileptic encephalopathy with ictal asystole requiring cardiac pacemaker implantation. Brain Dev. 2021 Apr 4. Epub ahead of print

[記事公開日]2021/05/07