Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

572 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Water intoxication: A clue to the presence of classical Fabry disease.
Miyabayashi T, Sato R, Okubo Y, Endo W, Inui T, Togashi N, Yanagisawa H, Eto Y, Haginoya K. Miyabayashi T, et al. Among authors: yanagisawa h. Brain Dev. 2022 Sep;44(8):592-593. doi: 10.1016/j.braindev.2022.07.001. Epub 2022 Jul 18. Brain Dev. 2022. PMID: 35864002 No abstract available.
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: yanagisawa h. 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
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. Among authors: yanagisawa h. 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
Application of a diagnostic methodology by quantification of 26:0 lysophosphatidylcholine in dried blood spots for Japanese newborn screening of X-linked adrenoleukodystrophy.
Wu C, Iwamoto T, Igarashi J, Miyajima T, Hossain MA, Yanagisawa H, Akiyama K, Shintaku H, Eto Y. Wu C, et al. Among authors: yanagisawa h. Mol Genet Metab Rep. 2017 Jul 11;12:115-118. doi: 10.1016/j.ymgmr.2017.06.004. eCollection 2017 Sep. Mol Genet Metab Rep. 2017. PMID: 28725571 Free PMC article.
572 results