H
Hiroki Nakabayashi
Researcher at Nihon University
Publications - 12
Citations - 244
Hiroki Nakabayashi is an academic researcher from Nihon University. The author has contributed to research in topics: Gene & Complementary DNA. The author has an hindex of 8, co-authored 12 publications receiving 234 citations.
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Journal ArticleDOI
Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype–phenotype correlation
Takanobu Otomo,T Muramatsu,Tohru Yorifuji,Torayuki Okuyama,Hiroki Nakabayashi,Toshiyuki Fukao,Toshihiro Ohura,Makoto Yoshino,Akemi Tanaka,Nobuhiko Okamoto,Koji Inui,Keiichi Ozono,Norio Sakai +12 more
TL;DR: The results show the effective molecular diagnosis of ML II and III and also provide phenotypic prediction, which is the first and comprehensive report of molecular analysis for ML patients of Japanese origin.
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Analysis of the human, bovine and rat 33-kDa proteins and cDNA in retina and pineal gland.
TL;DR: The results show that the 33-kDa proteins in the retina and pineal gland have the same sequences and the same phosphorylation site and suggest that the functional role of this protein is the same inThe retina and Pineal gland.
Journal Article
Magnetic resonance imaging of the brain in phenylketonuria
TL;DR: To investigate the correlation between the abnormalities of magnetic resonance imaging of the brain and blood phenylalanine (Phe) levels in phenylketonuria (PKU) and hyperphenylalaninemia (HPA), MRIs from 16 patients with early treated PKU and HPA are reviewed.
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Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency.
Keiji Kurokawa,Tohru Yorifuji,Masahiko Kawai,Toru Momoi,Hironori Nagasaka,Masaki Takayanagi,Keiko Kobayashi,Makoto Yoshino,Tomoki Kosho,Masanori Adachi,Harumi Otsuka,Shigenori Yamamoto,Toshiaki Murata,Akihito Suenaga,Tsutomu Ishii,Kihei Terada,Naoto Shimura,Kohji Kiwaki,Haruo Shintaku,Masaru Yamakawa,Hiroki Nakabayashi,Yosuke Wakutani,Tatsutoshi Nakahata +22 more
TL;DR: This study performed the largest mutational and clinical analyses of this disorder to date in Japan and identified two common polymorphisms that might be useful for simple linkage analysis in prenatal diagnosis.
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A mild case of dihydropteridine reductase deficiency with residual activity in erythrocytes
TL;DR: The residual activity of DHPR is found in erythrocytes purified with the recently established method (Nakanisi et al., 1982), and a patient with DHPR deficiency manifested no neurological symptoms except for mild mental retardation.