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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.
Itagaki R, Endo M, Yanagisawa H, Hossain MA, Akiyama K, Yaginuma K, Miyajima T, Wu C, Iwamoto T, Igarashi J, Kobayashi Y, Tohyama J, Iwama K, Matsumoto N, Shintaku H, Eto Y. Itagaki R, et al. Mol Genet Metab. 2018 May;124(1):64-70. doi: 10.1016/j.ymgme.2018.03.007. Epub 2018 Mar 19. Mol Genet Metab. 2018. PMID: 29599076
The severe clinical phenotype for a heterozygous Fabry female patient correlates to the methylation of non-mutated allele associated with chromosome 10q26 deletion syndrome.
Hossain MA, Yanagisawa H, Miyajima T, Wu C, Takamura A, Akiyama K, Itagaki R, Eto K, Iwamoto T, Yokoi T, Kurosawa K, Numabe H, Eto Y. Hossain MA, et al. Among authors: itagaki r. Mol Genet Metab. 2017 Mar;120(3):173-179. doi: 10.1016/j.ymgme.2017.01.002. Epub 2017 Jan 7. Mol Genet Metab. 2017. PMID: 28087245
40 results