Tetsuya Ito

Okazaki, Japan

Last Updated: 09/26/2026

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Found 75 publications

Quantification of glycosaminoglycans in dried blood spots, and evaluation of its usefulness as a secondary newborn screening test for mucopolysaccharidoses.

Quantification of glycosaminoglycans in dried blood spots, and evaluation of its usefulness as a secondary newborn screening test for mucopolysaccharidoses.

Journal: Biochemistry and biophysics reports

Published: December 22, 2025

Longitudinal Changes in Glutamine and Ammonia in Relation to Hyperammonemic Crisis in Urea Cycle Disorders.

Longitudinal Changes in Glutamine and Ammonia in Relation to Hyperammonemic Crisis in Urea Cycle Disorders.

Journal: JIMD reports

Published: December 01, 2025

Long-Term Safety and Efficacy of Pegvaliase in Japanese Adults With Phenylketonuria: Final Results of a Phase III Trial.

Long-Term Safety and Efficacy of Pegvaliase in Japanese Adults With Phenylketonuria: Final Results of a Phase III Trial.

Journal: JIMD reports

Published: November 06, 2025

A phase III double-blind, placebo-controlled, randomized withdrawal trial of 5‑aminolevulinic acid hydrochloride with sodium ferrous citrate for efficacy and safety in patients diagnosed as Leigh syndrome.

A phase III double-blind, placebo-controlled, randomized withdrawal trial of 5‑aminolevulinic acid hydrochloride with sodium ferrous citrate for efficacy and safety in patients diagnosed as Leigh syndrome.

Journal: PloS one

Published: August 28, 2025

Effect of long-term sepiapterin treatment on dietary phenylalanine tolerance in patients with phenylketonuria: Interim results from the phase 3 APHENITY Extension Study.

Effect of long-term sepiapterin treatment on dietary phenylalanine tolerance in patients with phenylketonuria: Interim results from the phase 3 APHENITY Extension Study.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: August 01, 2025

Extra-intestinal Edwardsiella tarda infection presenting as sequential cholecystitis and cholangitis: a case report.

Extra-intestinal Edwardsiella tarda infection presenting as sequential cholecystitis and cholangitis: a case report.

Journal: Clinical journal of gastroenterology

Published: July 31, 2025

Improvement of propionic acidemia-associated dilated cardiomyopathy through nutritional adjustment and heart failure medication: A case report.

Improvement of propionic acidemia-associated dilated cardiomyopathy through nutritional adjustment and heart failure medication: A case report.

Journal: Journal of cardiology cases

Published: December 21, 2024

Japanese experience of newborn screening for lysosomal storage diseases and adrenoleukodystrophy.

Japanese experience of newborn screening for lysosomal storage diseases and adrenoleukodystrophy.

Journal: Orphanet journal of rare diseases

Published: December 05, 2024

Perspectives on newborn screening for Fabry disease based on mothers' experiences in Japan.

Perspectives on newborn screening for Fabry disease based on mothers' experiences in Japan.

Journal: Journal of genetic counseling

Published: November 05, 2024

Two-year interim safety and efficacy of pegvaliase in Japanese adults with phenylketonuria.

Two-year interim safety and efficacy of pegvaliase in Japanese adults with phenylketonuria.

Journal: Molecular genetics and metabolism

Published: June 18, 2023

Blood glucose trends in glycogen storage disease type Ia: A cross-sectional study.

Blood glucose trends in glycogen storage disease type Ia: A cross-sectional study.

Journal: Journal of inherited metabolic disease

Published: November 25, 2022

An Infant Case of Streptococcus Pneumoniae-Associated Thrombotic Microangiopathy with Heterozygous CFI Mutation and CFHR3-CFHR1 Deletion.

An Infant Case of Streptococcus Pneumoniae-Associated Thrombotic Microangiopathy with Heterozygous CFI Mutation and CFHR3-CFHR1 Deletion.

Journal: The Tohoku journal of experimental medicine

Published: September 07, 2022

Showing 1-12 of 75

Last Updated: 09/26/2026