1.Levels of enzyme activities in six lysosomal storage diseases in Japanese neonates determined by liquid chromatography-tandem mass spectrometry

作　　者：Ryuichi Mashima ;Eri Sakai ;Motomichi Kosuga 等

出　　处：Molecular Genetics and Metabolism Reports. 2016 ;9:6-11.doi:10.1016/j.ymgmr.2016.08.007

出版社：Elsevier B.V.

文章 ID：182386740

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2.Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI: 10-Year follow up

作　　者：Mahoko Furujo ;Motomichi Kosuga ;Torayuki Okuyama

出　　处：Molecular Genetics and Metabolism Reports. 2017 ;13:69-75.doi:10.1016/j.ymgmr.2017.08.007

出版社：Elsevier B.V.

文章 ID：212606796

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3.A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan

作　　者：Yasuyuki Fukuhara ;Naoko Fuji ;Narutoshi Yamazaki 等

出　　处：Molecular Genetics and Metabolism Reports. 2018 ;14:3-9.doi:10.1016/j.ymgmr.2017.10.009

出版社：Elsevier B.V.

文章 ID：212606810

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4.Divergent clinical outcomes of alpha-glucosidase enzyme replacement therapy in two siblings with infantile-onset Pompe disease treated in the symptomatic or pre-symptomatic state

作　　者：Takashi Matsuoka ;Yoshiyuki Miwa ;Makiko Tajika 等

出　　处：Molecular Genetics and Metabolism Reports. 2016 ;9:98-105.doi:10.1016/j.ymgmr.2016.11.001

出版社：Elsevier B.V.

文章 ID：218525388

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5.A selective detection of lysophosphatidylcholine in dried blood spots for diagnosis of adrenoleukodystrophy by LC-MS/MS

作　　者：Ryuichi Mashima ;Misa Tanaka ;Eri Sakai 等

出　　处：Molecular Genetics and Metabolism Reports. 2016 ;7:16-19.doi:10.1016/j.ymgmr.2016.02.007

出版社：Elsevier B.V.

文章 ID：219409898

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6.The levels of urinary glycosaminoglycans of patients with attenuated and severe type of mucopolysaccharidosis II determined by liquid chromatography-tandem mass spectrometry

作　　者：Ryuichi Mashima ;Eri Sakai ;Misa Tanaka 等

出　　处：Molecular Genetics and Metabolism Reports. 2016 ;7:87-91.doi:10.1016/j.ymgmr.2016.03.009

出版社：Elsevier B.V.

文章 ID：219409908

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	Asami Hirakiyama	1篇
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	Motomichi Kosuga	6篇
	Torayuki Okuyama	6篇
	Ryuichi Mashima	4篇
	Eri Sakai	3篇
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