Tsujino Seiichi | Department Of Inherited Metabolic Disease National Institute Of Neuroscience National Center Of Neur

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概要

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著作論文

A novel R275X mutation of the SLC25A15 gene in a Japanese patient with the HHH syndrome
Diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis : a common mutation, R179X
An infantile/juvenile form of Alexander disease caused by a R79H mutation in GFAP
Structural and biochemical studies on Pompe disease and a "pseudodeficiency of acid α-glucosidase"
MR imaging and ^1H-MR spectroscopy of a case of van der Knaap disease
A common mutation and a novel mutation in Japanese patients with van der Knaap disease
A case of megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease) : molecular genetic study
Molecular genetic study in Japanese patients with Alexander disease : a novel mutation, R79L
Diagnosis of Alexander disease in a Japanese patient by molecular genetic analysis
AMELIORATION OF PROLIDASE DEFICIENCY IN FIBROBLASTS USING ADENOVIRUS MEDIATED GENE TRANSFER
A case of infantile Alexander disease with a milder phenotype and a novel GFAP mutation, L90P
Biochemical and structural study on a S529V mutant acid α-glucosidase responsive to pharmacological chaperones

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