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Molecular Genetics and Metabolism|October 6, 2005
DHPLC in clinical molecular diagnostic servicesKenjiro Kosaki, Toru Udaka, Torayuki Okuyama
Molecular Genetics and Metabolism Reports|September 14, 2018
Quantification of 11 enzyme activities of lysosomal storage disorders using liquid chromatography-tandem mass spectrometryMari Ohira, Torayuki Okuyama, Ryuichi Mashima
The Journal of Obstetrics and Gynaecology Research|March 21, 2013
Survey of second-trimester maternal serum screening in JapanTorayuki Okuyama, Junko Yotsumoto, Yumi Funato
Plos One|October 4, 2016
Structural Basis of Mucopolysaccharidosis Type II and Construction of a Database of Mutant Iduronate 2-SulfatasesSeiji Saito, Kazuki Ohno, Torayuki Okuyama, et al.
Molecular Genetics and Metabolism Reports|September 6, 2022
LC-MS/MS-based enzyme assay for lysosomal acid lipase using dried blood spotsMari Ohira, Marianne Barr, Torayuki Okuyama, et al.
Internal Medicine (Tokyo, Japan)|September 16, 2016
A Senile Case of Late-onset Pompe's DiseaseHiroki Takano, Tomohiko Ishihara, Motomichi Kosuga, et al.
Molecular Genetics and Metabolism Reports|September 15, 2016
Levels of enzyme activities in six lysosomal storage diseases in Japanese neonates determined by liquid chromatography-tandem mass spectrometryRyuichi Mashima, Eri Sakai, Motomichi Kosuga, et al.
Molecular Genetics and Metabolism|April 29, 2014
CT and endoscopic evaluation of larynx and trachea in mucopolysaccharidosesNoriko Morimoto, Masayuki Kitamura, Motomichi Kosuga, et al.
Molecular Genetics and Metabolism|September 21, 2011
Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VIMahoko Furujo, Toshihide Kubo, Motomichi Kosuga, et al.
Molecular Genetics and Metabolism Reports|January 13, 2018
Quantification of the enzyme activities of iduronate-2-sulfatase, N-acetylgalactosamine-6-sulfatase and N-acetylgalactosamine-4-sulfatase using liquid chromatography-tandem mass spectrometryRyuichi Mashima, Mari Ohira, Torayuki Okuyama, et al.
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