Toshihiro Ohura

Sendai, Japan

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 26 publications

Phenotypic and genetic spectra of galactose mutarotase deficiency: A nationwide survey conducted in Japan.

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

The Discovery of GALM Deficiency (Type IV Galactosemia) and Newborn Screening System for Galactosemia in Japan.

The Discovery of GALM Deficiency (Type IV Galactosemia) and Newborn Screening System for Galactosemia in Japan.

Journal: International journal of neonatal screening

Published: July 26, 2021

Food Preferences of Patients with Citrin Deficiency.

Food Preferences of Patients with Citrin Deficiency.

Journal: Nutrients

Published: July 14, 2021

Saccharopinuria accompanied by hyperammonemia and hypercitrullinemia presented with elderly-onset epilepsy, progressive cognitive decline, and gait ataxia.

Saccharopinuria accompanied by hyperammonemia and hypercitrullinemia presented with elderly-onset epilepsy, progressive cognitive decline, and gait ataxia.

Journal: Intractable & rare diseases research

Published: May 17, 2021

Gamma-Ray Observation of the Cygnus Region in the 100-TeV Energy Region.

Gamma-Ray Observation of the Cygnus Region in the 100-TeV Energy Region.

Journal: Physical review letters

Published: January 26, 2021

Analysis of daily energy, protein, fat, and carbohydrate intake in citrin-deficient patients: Towards prevention of adult-onset type II citrullinemia.

Analysis of daily energy, protein, fat, and carbohydrate intake in citrin-deficient patients: Towards prevention of adult-onset type II citrullinemia.

Journal: Molecular genetics and metabolism

Published: December 06, 2020

Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14).

Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14).

Journal: Journal of medical genetics

Published: November 29, 2020

First Detection of sub-PeV Diffuse Gamma Rays from the Galactic Disk: Evidence for Ubiquitous Galactic Cosmic Rays beyond PeV Energies.

First Detection of sub-PeV Diffuse Gamma Rays from the Galactic Disk: Evidence for Ubiquitous Galactic Cosmic Rays beyond PeV Energies.

Journal: Physical review letters

Published: November 06, 2020

Emergent treatment using glucose/insulin infusing for ketoacidosis in T2 deficiency.

Emergent treatment using glucose/insulin infusing for ketoacidosis in T2 deficiency.

Journal: Pediatrics international : official journal of the Japan Pediatric Society

Published: April 10, 2020

Guide for diagnosis and treatment of hyperphenylalaninemia.

Guide for diagnosis and treatment of hyperphenylalaninemia.

Journal: Pediatrics international : official journal of the Japan Pediatric Society

Published: March 20, 2020

Policy statement of enteral nutrition for preterm and very low birthweight infants.

Policy statement of enteral nutrition for preterm and very low birthweight infants.

Journal: Pediatrics international : official journal of the Japan Pediatric Society

Published: August 21, 2019

Current treatment for citrin deficiency during NICCD and adaptation/compensation stages: Strategy to prevent CTLN2.

Current treatment for citrin deficiency during NICCD and adaptation/compensation stages: Strategy to prevent CTLN2.

Journal: Molecular genetics and metabolism

Published: May 02, 2019

Showing 1-12 of 26

Last Updated: 09/26/2026