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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2006 1
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2008 1
2009 2
2010 2
2011 2
2012 1
2013 2
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2015 1
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2018 2
2019 2
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22 results

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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.
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.
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
22 results