Mitsugu Uematsu
0000-0001-9670-3744
5 papers found
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A patient with a 6q22.1 deletion and a phenotype of non-progressive early-onset generalized epilepsy with tremor
Pyridoxal 5′-phosphate and related metabolites in hypophosphatasia: Effects of enzyme replacement therapy
In response to letter to Editor by Nosaka et al. on our paper: Elevated serum levels of neutrophil elastase in patients with influenza virus-associated encephalopathy. J Neurol Sci 2015;349:190–195
Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis: The first report of a CLN8 mutation in Japan
Acute encephalitis with refractory, repetitive partial seizures: Pathological findings and a new therapeutic approach using tacrolimus
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