Yoichi Wada
Sendai, Japan
Last Updated: 09/26/2026
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Found 26 publications
A Japanese Case of Infantile Liver Failure Syndrome Type 2 With Novel NBAS Variants.
Journal: Pediatrics international : official journal of the Japan Pediatric Society
Published: January 27, 2026
Development of a quantitative real-time PCR-based newborn screening system for citrin deficiency using dried blood spots.
Journal: Molecular genetics and metabolism
Published: December 12, 2025
Long-Term Efficacy and Safety of Glycerol Phenylbutyrate in Japanese Patients With Urea Cycle Disorders: Results From a Phase 3 Switch-Over and 12-Month Extension Study.
Journal: JIMD reports
Published: December 01, 2025
From N-of-1 to versatility in propionic acidemia: Antisense oligonucleotide-mediated skipping of a constitutive PCCA pseudoexon.
Journal: Molecular therapy. Nucleic acids
Published: October 17, 2025
Galactose mutarotase deficiency as the galactosemia type IV.
Journal: Journal of human genetics
Published: October 03, 2025
Carnitine Deficiency Caused by Salcaprozic Acid Sodium Contained in Oral Semaglutide in a Patient with Multiple Acyl-CoA Dehydrogenase Deficiency.
Journal: International journal of molecular sciences
Published: January 23, 2025
Phenotypic and genetic spectra of galactose mutarotase deficiency: A nationwide survey conducted in Japan.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 10, 2023
Stealthy progression of type 2 diabetes mellitus due to impaired ketone production in an adult patient with multiple acyl-CoA dehydrogenase deficiency.
Journal: Molecular genetics and metabolism reports
Published: October 19, 2023
Improved sensitivity and specificity for citrin deficiency using selected amino acids and acylcarnitines in the newborn screening.
Journal: Journal of inherited metabolic disease
Published: May 22, 2023
A method for phenylalanine self-monitoring using phenylalanine ammonia-lyase and a pre-existing portable ammonia detection system.
Journal: Molecular genetics and metabolism reports
Published: March 15, 2023
Case report: Young-onset large vessel ischemic stroke due to hyperhomocysteinemia associated with the C677T polymorphism on 5,10-methylenetetrahydrofolate reductase and multi-vitamin deficiency.
Journal: Frontiers in neurology
Published: March 13, 2023
Successful pregnancy and childbirth without metabolic abnormality in a patient with holocarboxylase synthetase deficiency.
Journal: Molecular genetics and metabolism reports
Published: August 09, 2022
Last Updated: 09/26/2026