Yoshinao Wada

Osaka, Japan

Last Updated: 09/26/2026

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Found 100 publications

Functional characterization of a novel ZIP8 variant causing impaired manganese homeostasis and congenital disorders of glycosylation.

Functional characterization of a novel ZIP8 variant causing impaired manganese homeostasis and congenital disorders of glycosylation.

Journal: Biometals : an international journal on the role of metal ions in biology, biochemistry, and medicine

Published: April 17, 2026

Clinical and molecular expansion of SSR4-CDG: an adult patient and pathogenic interpretation of an in-frame variant.

Clinical and molecular expansion of SSR4-CDG: an adult patient and pathogenic interpretation of an in-frame variant.

Journal: Journal of human genetics

Published: April 13, 2026

V-ATPase a3 Directs Secretory Lysosome Transport in Enamel Formation.

V-ATPase a3 Directs Secretory Lysosome Transport in Enamel Formation.

Journal: Journal of dental research

Published: January 21, 2026

Approaches to diagnostic screening for congenital disorders of glycosylation and its prevalence in Japan.

Approaches to diagnostic screening for congenital disorders of glycosylation and its prevalence in Japan.

Journal: Journal of human genetics

Published: April 30, 2025

Erratum: Mass Spectrometry as a First-Line Diagnostic Aid for Congenital Disorders of Glycosylation.

Erratum: Mass Spectrometry as a First-Line Diagnostic Aid for Congenital Disorders of Glycosylation.

Journal: Mass spectrometry (Tokyo, Japan)

Published: March 13, 2025

Mass Spectrometry as a First-Line Diagnostic Aid for Congenital Disorders of Glycosylation.

Mass Spectrometry as a First-Line Diagnostic Aid for Congenital Disorders of Glycosylation.

Journal: Mass spectrometry (Tokyo, Japan)

Published: January 14, 2025

Clinical and Molecular Features of Patients With Congenital Disorders of Glycosylation in Japan.

Clinical and Molecular Features of Patients With Congenital Disorders of Glycosylation in Japan.

Journal: JIMD reports

Published: January 04, 2025

The long way to diagnosis: attention disorder, alcohol addiction or congenital disorder of glycosylation? A case report.

The long way to diagnosis: attention disorder, alcohol addiction or congenital disorder of glycosylation? A case report.

Journal: BMC psychiatry

Published: December 19, 2024

Quantitative Assessment of Core Fucosylation for Congenital Disorders of Glycosylation.

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.

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.

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

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

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

Journal: Mass spectrometry (Tokyo, Japan)

Published: June 01, 2022

Showing 1-12 of 100

Last Updated: 09/26/2026