Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Yasuyuki Fukuhara"'
Autor:
Atsushi Hattori, Torayuki Okuyama, Tetsumin So, Motomichi Kosuga, Keiko Ichimoto, Kei Murayama, Masayo Kagami, Maki Fukami, Yasuyuki Fukuhara
Publikováno v:
Human Genome Variation, Vol 9, Iss 1, Pp 1-4 (2022)
Abstract We describe a patient presenting with argininosuccinic aciduria and Silver-Russell syndrome (SRS). SRS was caused by maternal uniparental disomy of chromosome 7 (UPD(7)mat). UPD(7)mat also unmasked a maternally inherited splicing variant in
Externí odkaz:
https://doaj.org/article/afa5b489798645e088b9cf73ab60d398
Autor:
Yasuyuki Fukuhara, Ai Miura, Narutoshi Yamazaki, Tetsumin So, Motomichi Kosuga, Kumiko Yanagi, Tadashi Kaname, Takanori Yamagata, Hitoshi Sakuraba, Torayuki Okuyama
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100692- (2020)
We previously showed that the genotype-phenotype correlation in MPS II is well-conserved in Japan (Kosuga et al., 2016). Almost all of our patients with attenuated MPS II have missense variants, which is expected to result in residual activity of idu
Externí odkaz:
https://doaj.org/article/7b0c46a5ad294be7be54c3de91a62abf
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 24, Iss , Pp 100630- (2020)
The natural history of cognitive growth in the neuronopathic form of Mucopolysaccharidosis type II (MPS II) is not well defined especially their patterns of development and decline. The ability to predict the developmental course of the neurologicall
Externí odkaz:
https://doaj.org/article/358760a7636b4661969d3ec1f88cab77
Autor:
Yasuyuki Fukuhara, Naoko Fuji, Narutoshi Yamazaki, Asami Hirakiyama, Tetsuharu Kamioka, Joo-Hyun Seo, Ryuichi Mashima, Motomichi Kosuga, Torayuki Okuyama
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 14, Iss C, Pp 3-9 (2018)
Pompe disease is an autosomal recessive disorder caused by acid α-glucosidase (GAA) deficiency, which results in the accumulation of glycogen in lysosomes in multiple tissues, including cardiac, skeletal, and smooth muscle cells. Thus far, 558 seque
Externí odkaz:
https://doaj.org/article/c0eff96168d641809ed4cbfb372f483c
Autor:
Shaowei Li, Terumi Takahara, Masayuki Fujino, Yasuyuki Fukuhara, Toshiro Sugiyama, Xiao-Kang Li, Shiro Takahara
Publikováno v:
PLoS ONE, Vol 12, Iss 11, p e0187810 (2017)
Steatosis has a low tolerance against ischemia-reperfusion injury (IRI). To prevent IRI in the steatotic liver, we attempted to elucidate the protective effect of astaxanthin (ASTX) in the steatotic liver model by giving mice a methionine and choline
Externí odkaz:
https://doaj.org/article/ffd3f55e3dd44842998a6f49fc949a78
Akademický článek
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Publikováno v:
Pediatrics International. 65
Autor:
Kazuhiro Kida, Motomichi Kosuga, Akihito Honda, Go Takei, Akira Ishiguro, Yasuyuki Fukuhara, Hiromasa Yabe, Torayuki Okuyama, Narutoshi Yamazaki, Masayoshi Senda, Takashi Koike, Hiroshi Matsumoto
Publikováno v:
Brain and Development. 41:546-550
Mucopolysaccharidosis type IH (MPS IH, Hurler syndrome) is a progressive, multisystem autosomal recessive lysosomal storage disorder resulting in the consequent accumulation of glycosaminoglycans. It is well recognized that early hematopoietic stem c
Autor:
Motomichi Kosuga, Kumiko Yanagi, Yasuyuki Fukuhara, Torayuki Okuyama, Narutoshi Yamazaki, Ai Miura, Takanori Yamagata, Tadashi Kaname, Hitoshi Sakuraba, Tetsumin So
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 25, Iss, Pp 100692-(2020)
Molecular Genetics and Metabolism Reports, Vol 25, Iss, Pp 100692-(2020)
We previously showed that the genotype-phenotype correlation in MPS II is well-conserved in Japan (Kosuga et al., 2016). Almost all of our patients with attenuated MPS II have missense variants, which is expected to result in residual activity of idu
Autor:
Yasuyuki Fukuhara, Ai Miura, Narutoshi Yamazaki, Tetsumin So, Motomichi Kosuga, Torayuki Okuyama
Publikováno v:
Molecular Genetics and Metabolism. 135:S45