Machiko Kadoya
Osaka, Japan
Last Updated: 09/26/2026
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Found 11 publications
Approaches to diagnostic screening for congenital disorders of glycosylation and its prevalence in Japan.
Journal: Journal of human genetics
Published: April 30, 2025
Clinical and Molecular Features of Patients With Congenital Disorders of Glycosylation in Japan.
Journal: JIMD reports
Published: January 04, 2025
Quantitative Assessment of Core Fucosylation for Congenital Disorders of Glycosylation.
Journal: Mass spectrometry (Tokyo, Japan)
Published: October 17, 2024
Progressive myoclonic epilepsy as an expanding phenotype of NGLY1-associated congenital deglycosylation disorder: A case report and review of the literature.
Journal: European journal of medical genetics
Published: July 03, 2023
Mass Spectrometry of Transferrin and Apolipoprotein CIII from Dried Blood Spots for Congenital Disorders of Glycosylation.
Journal: Mass spectrometry (Tokyo, Japan)
Published: November 14, 2022
Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG).
Journal: Scientific reports
Published: May 02, 2022
Novel ALG12 variants and hydronephrosis in siblings with impaired N-glycosylation.
Journal: Brain & development
Published: March 30, 2021
Primary ovarian insufficiency in a female with phosphomannomutase-2 gene (PMM2) mutations for congenital disorder of glycosylation.
Journal: Endocrine journal
Published: February 15, 2021
Decreased sialylation of IgA1 O-glycans associated with pneumococcal hemolytic uremic syndrome.
Journal: Pediatrics international : official journal of the Japan Pediatric Society
Published: November 19, 2012
Congenital disorder of glycosylation type Ic: report of a Japanese case.
Journal: Brain & development
Published: October 20, 2011
Showing 1-11 of 11
Last Updated: 09/26/2026