Wada Y - Search Results

1

Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: SRD5A3-Congenital Disorders of Glycosylation and RP1-Related Retinitis Pigmentosa.

Tachibana N, Hosono K, Nomura S, Arai S, Torii K, Kurata K, Sato M, Shimakawa S, Azuma N, Ogata T, Wada Y, Okamoto N, Saitsu H, Nishina S, Hotta Y. Tachibana N, et al. Among authors: wada y. Genes (Basel). 2022 Feb 16;13(2):359. doi: 10.3390/genes13020359. Genes (Basel). 2022. PMID: 35205402 Free PMC article.

2

Apolipoprotein C-III O-glycoform profiling of 500 serum samples by matrix-assisted laser desorption/ionization mass spectrometry for diagnosis of congenital disorders of glycosylation.

Wada Y, Okamoto N. Wada Y, et al. J Mass Spectrom. 2021 Apr;56(4):e4597. doi: 10.1002/jms.4597. Epub 2020 Jul 17. J Mass Spectrom. 2021. PMID: 32677746

3

Congenital disorders of glycosylation type IIb with MOGS mutations cause early infantile epileptic encephalopathy, dysmorphic features, and hepatic dysfunction.

Anzai R, Tsuji M, Yamashita S, Wada Y, Okamoto N, Saitsu H, Matsumoto N, Goto T. Anzai R, et al. Among authors: wada y. Brain Dev. 2021 Mar;43(3):402-410. doi: 10.1016/j.braindev.2020.10.013. Epub 2020 Nov 28. Brain Dev. 2021. PMID: 33261925 Free article.

4

Primary ovarian insufficiency in a female with phosphomannomutase-2 gene (PMM2) mutations for congenital disorder of glycosylation.

Masunaga Y, Mochizuki M, Kadoya M, Wada Y, Okamoto N, Fukami M, Kato F, Saitsu H, Ogata T. Masunaga Y, et al. Among authors: wada y. Endocr J. 2021 May 28;68(5):605-611. doi: 10.1507/endocrj.EJ20-0706. Epub 2021 Mar 11. Endocr J. 2021. PMID: 33583911 Free article.

5

Novel ALG12 variants and hydronephrosis in siblings with impaired N-glycosylation.

Hiraide T, Wada Y, Matsubayashi T, Kadoya M, Masunaga Y, Ohkubo Y, Nakashima M, Okamoto N, Ogata T, Saitsu H. Hiraide T, et al. Among authors: wada y. Brain Dev. 2021 Oct;43(9):945-951. doi: 10.1016/j.braindev.2021.05.013. Epub 2021 Jun 3. Brain Dev. 2021. PMID: 34092405

6

Electrospray Ionization Mass Spectrometry of Apolipoprotein CIII to Evaluate O-glycan Site Occupancy and Sialylation in Congenital Disorders of Glycosylation.

Wada Y, Okamoto N. Wada Y, et al. Mass Spectrom (Tokyo). 2022;11(1):A0104. doi: 10.5702/massspectrometry.A0104. Epub 2022 Aug 10. Mass Spectrom (Tokyo). 2022. PMID: 36060528 Free PMC article.

7

Electrospray Ionization Mass Spectrometry of Transferrin: Use of Quadrupole Mass Analyzers for Congenital Disorders of Glycosylation.

Wada Y, Okamoto N. Wada Y, et al. Mass Spectrom (Tokyo). 2022;11(1):A0103. doi: 10.5702/massspectrometry.A0103. Epub 2022 Apr 15. Mass Spectrom (Tokyo). 2022. PMID: 36060529 Free PMC article.

8

Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG).

Masunaga Y, Nishimura G, Takahashi K, Hishiyama T, Imamura M, Kashimada K, Kadoya M, Wada Y, Okamoto N, Oba D, Ohashi H, Ikeno M, Sakamoto Y, Fukami M, Saitsu H, Ogata T. Masunaga Y, et al. Among authors: wada y. Sci Rep. 2022 Oct 12;12(1):17079. doi: 10.1038/s41598-022-21751-x. Sci Rep. 2022. PMID: 36224347 Free PMC article.

9

Congenital disorder of glycosylation type Ic: report of a Japanese case.

Ichikawa K, Kadoya M, Wada Y, Okamoto N. Ichikawa K, et al. Among authors: wada y. Brain Dev. 2013 Jun;35(6):586-9. doi: 10.1016/j.braindev.2012.09.003. Epub 2012 Oct 6. Brain Dev. 2013. PMID: 23044053

10

A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination.

Miyamoto S, Nakashima M, Ohashi T, Hiraide T, Kurosawa K, Yamamoto T, Takanashi J, Osaka H, Inoue K, Miyazaki T, Wada Y, Okamoto N, Saitsu H. Miyamoto S, et al. Among authors: wada y. Mol Genet Genomic Med. 2019 Aug;7(8):e814. doi: 10.1002/mgg3.814. Epub 2019 Jun 23. Mol Genet Genomic Med. 2019. PMID: 31231989 Free PMC article.

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