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Clinical, biochemical and molecular investigation of adult-onset glutaric acidemia type II: Characteristics in comparison with pediatric cases.
Yamada K, Kobayashi H, Bo R, Takahashi T, Purevsuren J, Hasegawa Y, Taketani T, Fukuda S, Ohkubo T, Yokota T, Watanabe M, Tsunemi T, Mizusawa H, Takuma H, Shioya A, Ishii A, Tamaoka A, Shigematsu Y, Sugie H, Yamaguchi S. Yamada K, et al. Among authors: sugie h. Brain Dev. 2016 Mar;38(3):293-301. doi: 10.1016/j.braindev.2015.08.011. Epub 2015 Sep 26. Brain Dev. 2016. PMID: 26403312
Amelioration of acylcarnitine profile using bezafibrate and riboflavin in a case of adult-onset glutaric acidemia type 2 with novel mutations of the electron transfer flavoprotein dehydrogenase (ETFDH) gene.
Shioya A, Takuma H, Yamaguchi S, Ishii A, Hiroki M, Fukuda T, Sugie H, Shigematsu Y, Tamaoka A. Shioya A, et al. Among authors: sugie h. J Neurol Sci. 2014 Nov 15;346(1-2):350-2. doi: 10.1016/j.jns.2014.08.040. Epub 2014 Aug 30. J Neurol Sci. 2014. PMID: 25216552 No abstract available.
A Japanese adult form of CPT II deficiency associated with a homozygous F383Y mutation.
Aoki J, Yasuno T, Sugie H, Kido H, Nishino I, Shigematsu Y, Kanazawa M, Takayanagi M, Kumami M, Endo K, Kaneoka H, Yamaguchi M, Fukuda T, Yamamoto T. Aoki J, et al. Among authors: sugie h. Neurology. 2007 Aug 21;69(8):804-6. doi: 10.1212/01.wnl.0000267665.44477.85. Neurology. 2007. PMID: 17709715 No abstract available.
197 results