Tetsuro Matsuhashi
Chiba, Japan
Last Updated: 09/26/2026
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Found 21 publications
Genetic, metabolic and clinical delineation of an MRPS23-associated mitochondrial disorder.
Journal: Scientific reports
Published: July 25, 2023
Strategic validation of variants of uncertain significance in ECHS1 genetic testing.
Journal: Journal of medical genetics
Published: November 01, 2022
SGLT-1-specific inhibition ameliorates renal failure and alters the gut microbial community in mice with adenine-induced renal failure.
Journal: Physiological reports
Published: August 28, 2021
Development of Leigh syndrome with a high probability of cardiac manifestations in infantile-onset patients with m.14453G > A.
Journal: Mitochondrion
Published: August 17, 2021
A Japanese single-center experience of the efficacy and safety of asfotase alfa in pediatric-onset hypophosphatasia.
Journal: Orphanet journal of rare diseases
Published: July 14, 2021
Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients.
Journal: International journal of cardiology
Published: February 03, 2021
Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis.
Journal: Archives of disease in childhood. Fetal and neonatal edition
Published: January 14, 2021
Therapeutic effect of N-carbamylglutamate in CPS1 deficiency.
Journal: Molecular genetics and metabolism reports
Published: April 28, 2020
HPRT-related hyperuricemia with a novel p.V35M mutation in HPRT1 presenting familial juvenile gout.
Journal: CEN case reports
Published: December 28, 2019
Drugs Repurposed as Antiferroptosis Agents Suppress Organ Damage, Including AKI, by Functioning as Lipid Peroxyl Radical Scavengers.
Journal: Journal of the American Society of Nephrology : JASN
Published: June 06, 2019
Last Updated: 09/26/2026