Kadoya M - Search Results

1

Progressive myoclonic epilepsy as an expanding phenotype of NGLY1-associated congenital deglycosylation disorder: A case report and review of the literature.

Sonoda Y, Fujita A, Torio M, Mukaino T, Sakata A, Matsukura M, Yonemoto K, Hatae K, Ichimiya Y, Chong PF, Ochiai M, Wada Y, Kadoya M, Okamoto N, Murakami Y, Suzuki T, Isobe N, Shigeto H, Matsumoto N, Sakai Y, Ohga S. Sonoda Y, et al. Among authors: kadoya m. Eur J Med Genet. 2024 Feb;67:104895. doi: 10.1016/j.ejmg.2023.104895. Epub 2023 Dec 7. Eur J Med Genet. 2024. PMID: 38070824 Free article. Review.

2

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: kadoya m. 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

3

Mass Spectrometry of Transferrin and Apolipoprotein CIII from Dried Blood Spots for Congenital Disorders of Glycosylation.

Wada Y, Kadoya M, Okamoto N. Wada Y, et al. Among authors: kadoya m. Mass Spectrom (Tokyo). 2022;11(1):A0113. doi: 10.5702/massspectrometry.A0113. Epub 2022 Dec 28. Mass Spectrom (Tokyo). 2022. PMID: 36713804 Free PMC article.

4

Mass spectrometry of apolipoprotein C-III, a simple analytical method for mucin-type O-glycosylation and its application to an autosomal recessive cutis laxa type-2 (ARCL2) patient.

Wada Y, Kadoya M, Okamoto N. Wada Y, et al. Among authors: kadoya m. Glycobiology. 2012 Aug;22(8):1140-4. doi: 10.1093/glycob/cws086. Epub 2012 May 18. Glycobiology. 2012. PMID: 22611120

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: kadoya m. 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

Dissociation profile of protonated fucosyl glycopeptides and quantitation of fucosylation levels of glycoproteins by mass spectrometry.

Tajiri M, Kadoya M, Wada Y. Tajiri M, et al. Among authors: kadoya m. J Proteome Res. 2009 Feb;8(2):688-93. doi: 10.1021/pr800727w. J Proteome Res. 2009. PMID: 19099505

7

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: kadoya m. 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.

8

Decreased sialylation of IgA1 O-glycans associated with pneumococcal hemolytic uremic syndrome.

Aoki H, Shiomi M, Ikeda T, Ishii T, Shimizu N, Togawa M, Okamoto N, Kadoya M, Wada Y. Aoki H, et al. Among authors: kadoya m. Pediatr Int. 2013 Dec;55(6):e143-5. doi: 10.1111/ped.12166. Pediatr Int. 2013. PMID: 24330298

9

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: kadoya m. Sci Rep. 2022 Oct 12;12(1):17079. doi: 10.1038/s41598-022-21751-x. Sci Rep. 2022. PMID: 36224347 Free PMC article.

10

In-gel digestion with endoproteinase LysC.

Wada Y, Kadoya M. Wada Y, et al. Among authors: kadoya m. J Mass Spectrom. 2003 Jan;38(1):117-8. doi: 10.1002/jms.384. J Mass Spectrom. 2003. PMID: 12526013 No abstract available.

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