R. Itagaki

Characteristics of PPT1 and TPP1 enzymes in neuronal ceroid lipofuscinosis (NCL) 1 and 2 by dried blood spots (DBS) and leukocytes and their application to newborn screening.

N. Matsumoto, Y. Eto, J. Tohyama, 2018, Molecular genetics and metabolism.

The severe clinical phenotype for a heterozygous Fabry female patient correlates to the methylation of non-mutated allele associated with chromosome 10q26 deletion syndrome.

Y. Eto, K. Kurosawa, Takayuki Yokoi, 2017, Molecular genetics and metabolism.

Clinical features of two Japanese siblings of neuronal ceroid lipofuscinosis type 1 (CLN1) complicated with TypeⅡ diabetes mellitus

Ayumi Takamura, K. Eto, R. Itagaki, 2023, Molecular genetics and metabolism reports.