Taro Yamazaki
Saitama, Japan
Last Updated: 09/26/2026
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Found 11 publications
Carbamoyl phosphate synthetase 1 deficiency manifested in an adult treated with prednisone for polymyositis, and cured by live-donor liver transplantation.
Journal: Molecular genetics and metabolism reports
Published: August 30, 2024
Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan.
Journal: Scientific reports
Published: November 06, 2020
Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis.
Journal: Journal of inherited metabolic disease
Published: October 24, 2019
First Japanese case of maternal phenylketonuria treated with sapropterin dihydrochloride and the normal growth and development of the child.
Journal: Molecular genetics and metabolism reports
Published: July 29, 2019
Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients.
Journal: Journal of inherited metabolic disease
Published: September 06, 2016
High-dose Cepharanthin for pediatric chronic immune thrombocytopenia in Japan.
Journal: Pediatrics international : official journal of the Japan Pediatric Society
Published: September 16, 2015
Myocerebrohepatopathy spectrum disorder due to POLG mutations: A clinicopathological report.
Journal: Brain & development
Published: August 08, 2014
New MT-ND6 and NDUFA1 mutations in mitochondrial respiratory chain disorders.
Journal: Annals of clinical and translational neurology
Published: December 11, 2013
Molecular diagnosis of mitochondrial respiratory chain disorders in Japan: focusing on mitochondrial DNA depletion syndrome.
Journal: Pediatrics international : official journal of the Japan Pediatric Society
Published: July 11, 2013
Showing 1-11 of 11
Last Updated: 09/26/2026