Aoyama Y - Search Results

1

Recent advances in understanding beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency.

Fukao T, Sasai H, Aoyama Y, Otsuka H, Ago Y, Matsumoto H, Abdelkreem E. Fukao T, et al. Among authors: aoyama y. J Hum Genet. 2019 Feb;64(2):99-111. doi: 10.1038/s10038-018-0524-x. Epub 2018 Nov 5. J Hum Genet. 2019. PMID: 30393371 Review.

2

Development of MLPA for human ACAT1 gene and identification of a heterozygous Alu-mediated deletion of exons 3 and 4 in a patient with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.

Fukao T, Aoyama Y, Murase K, Hori T, Harijan RK, Wierenga RK, Boneh A, Kondo N. Fukao T, et al. Among authors: aoyama y. Mol Genet Metab. 2013 Sep-Oct;110(1-2):184-7. doi: 10.1016/j.ymgme.2013.07.004. Epub 2013 Jul 14. Mol Genet Metab. 2013. PMID: 23920042

3

Metabolic encephalopathy in beta-ketothiolase deficiency: the first report from India.

Akella RR, Aoyama Y, Mori C, Lingappa L, Cariappa R, Fukao T. Akella RR, et al. Among authors: aoyama y. Brain Dev. 2014 Jun;36(6):537-40. doi: 10.1016/j.braindev.2013.07.007. Epub 2013 Aug 16. Brain Dev. 2014. PMID: 23958592

4

The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentation.

Fukao T, Akiba K, Goto M, Kuwayama N, Morita M, Hori T, Aoyama Y, Venkatesan R, Wierenga R, Moriyama Y, Hashimoto T, Usuda N, Murayama K, Ohtake A, Hasegawa Y, Shigematsu Y, Hasegawa Y. Fukao T, et al. Among authors: aoyama y. J Hum Genet. 2014 Nov;59(11):609-14. doi: 10.1038/jhg.2014.79. Epub 2014 Sep 18. J Hum Genet. 2014. PMID: 25231369

5

Exon 10 skipping in ACAT1 caused by a novel c.949G>A mutation located at an exonic splice enhancer site.

Otsuka H, Sasai H, Nakama M, Aoyama Y, Abdelkreem E, Ohnishi H, Konstantopoulou V, Sass JO, Fukao T. Otsuka H, et al. Among authors: aoyama y. Mol Med Rep. 2016 Nov;14(5):4906-4910. doi: 10.3892/mmr.2016.5819. Epub 2016 Oct 10. Mol Med Rep. 2016. PMID: 27748876

6

Clinical and Mutational Characterizations of Ten Indian Patients with Beta-Ketothiolase Deficiency.

Abdelkreem E, Akella RRD, Dave U, Sane S, Otsuka H, Sasai H, Aoyama Y, Nakama M, Ohnishi H, Mahmoud S, Abd El Aal M, Fukao T. Abdelkreem E, et al. Among authors: aoyama y. JIMD Rep. 2017;35:59-65. doi: 10.1007/8904_2016_26. Epub 2016 Dec 8. JIMD Rep. 2017. PMID: 27928777 Free PMC article.

7

Characterization and outcome of 41 patients with beta-ketothiolase deficiency: 10 years' experience of a medical center in northern Vietnam.

Nguyen KN, Abdelkreem E, Colombo R, Hasegawa Y, Can NT, Bui TP, Le HT, Tran MT, Nguyen HT, Trinh HT, Aoyama Y, Sasai H, Yamaguchi S, Fukao T, Vu DC. Nguyen KN, et al. Among authors: aoyama y. J Inherit Metab Dis. 2017 May;40(3):395-401. doi: 10.1007/s10545-017-0026-6. Epub 2017 Feb 20. J Inherit Metab Dis. 2017. PMID: 28220263

8

A novel mutation (c.121‑13T>A) in the polypyrimidine tract of the splice acceptor site of intron 2 causes exon 3 skipping in mitochondrial acetoacetyl-CoA thiolase gene.

Aoyama Y, Sasai H, Abdelkreem E, Otsuka H, Nakama M, Kumar S, Aroor S, Shukla A, Fukao T. Aoyama Y, et al. Mol Med Rep. 2017 Jun;15(6):3879-3884. doi: 10.3892/mmr.2017.6434. Epub 2017 Apr 4. Mol Med Rep. 2017. PMID: 28393214

9

Ketone body metabolism and its defects.

Fukao T, Mitchell G, Sass JO, Hori T, Orii K, Aoyama Y. Fukao T, et al. Among authors: aoyama y. J Inherit Metab Dis. 2014 Jul;37(4):541-51. doi: 10.1007/s10545-014-9704-9. Epub 2014 Apr 8. J Inherit Metab Dis. 2014. PMID: 24706027 Review.

10

Japanese Male Siblings with 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency (HSD10 Disease) Without Neurological Regression.

Akagawa S, Fukao T, Akagawa Y, Sasai H, Kohdera U, Kino M, Shigematsu Y, Aoyama Y, Kaneko K. Akagawa S, et al. Among authors: aoyama y. JIMD Rep. 2017;32:81-85. doi: 10.1007/8904_2016_570. Epub 2016 Jun 16. JIMD Rep. 2017. PMID: 27306202 Free PMC article.

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