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Year Number of Results
2000 1
2002 5
2003 4
2004 1
2005 4
2006 1
2007 3
2008 1
2009 3
2011 3
2012 2
2013 1
2014 4
2015 1
2016 3
2017 2
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2019 1
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40 results

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Page 1
Saccharopinuria accompanied by hyperammonemia and hypercitrullinemia presented with elderly-onset epilepsy, progressive cognitive decline, and gait ataxia.
Norioka R, Tobisawa S, Nishigori R, Kuhara T, Yazaki M, Nagao M, Ohura T, Takai Y, Funai A, Miyamoto K, Kawata A, Takahashi K. Norioka R, et al. Among authors: kuhara t. Intractable Rare Dis Res. 2021 May;10(2):126-130. doi: 10.5582/irdr.2021.01003. Intractable Rare Dis Res. 2021. PMID: 33996359 Free PMC article.
Nit1 is a metabolite repair enzyme that hydrolyzes deaminated glutathione.
Peracchi A, Veiga-da-Cunha M, Kuhara T, Ellens KW, Paczia N, Stroobant V, Seliga AK, Marlaire S, Jaisson S, Bommer GT, Sun J, Huebner K, Linster CL, Cooper AJL, Van Schaftingen E. Peracchi A, et al. Among authors: kuhara t. Proc Natl Acad Sci U S A. 2017 Apr 18;114(16):E3233-E3242. doi: 10.1073/pnas.1613736114. Epub 2017 Apr 3. Proc Natl Acad Sci U S A. 2017. PMID: 28373563 Free PMC article.
A Japanese case of β-ureidopropionase deficiency with dysmorphic features.
Akiyama T, Shibata T, Yoshinaga H, Kuhara T, Nakajima Y, Kato T, Maeda Y, Ohse M, Oka M, Kageyama M, Kobayashi K. Akiyama T, et al. Among authors: kuhara t. Brain Dev. 2017 Jan;39(1):58-61. doi: 10.1016/j.braindev.2016.08.001. Epub 2016 Aug 21. Brain Dev. 2017. PMID: 27553092
Calcified nodules on fingers in primary hyperoxaluria type 2.
Yamanouchi M, Ubara Y, Takayama T, Kuhara T, Takaichi K. Yamanouchi M, et al. Among authors: kuhara t. Lancet Diabetes Endocrinol. 2016 May;4(5):468. doi: 10.1016/S2213-8587(15)00372-1. Epub 2015 Nov 3. Lancet Diabetes Endocrinol. 2016. PMID: 26542998 No abstract available.
A biomarker found in cadmium exposed residents of Thailand by metabolome analysis.
Suvagandha D, Nishijo M, Swaddiwudhipong W, Honda R, Ohse M, Kuhara T, Nakagawa H, Ruangyuttikarn W. Suvagandha D, et al. Among authors: kuhara t. Int J Environ Res Public Health. 2014 Apr 2;11(4):3661-77. doi: 10.3390/ijerph110403661. Int J Environ Res Public Health. 2014. PMID: 24699029 Free PMC article.
Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation [corrected].
Nakajima Y, Meijer J, Dobritzsch D, Ito T, Meinsma R, Abeling NG, Roelofsen J, Zoetekouw L, Watanabe Y, Tashiro K, Lee T, Takeshima Y, Mitsubuchi H, Yoneyama A, Ohta K, Eto K, Saito K, Kuhara T, van Kuilenburg AB. Nakajima Y, et al. Among authors: kuhara t. J Inherit Metab Dis. 2014 Sep;37(5):801-12. doi: 10.1007/s10545-014-9682-y. Epub 2014 Feb 14. J Inherit Metab Dis. 2014. PMID: 24526388 Free PMC article.
40 results