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Masaru Shimura

Boston Children's Hospital

31

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428

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Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients.

2021 International Journal of Cardiology
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Author Correction: Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan.

2021 Scientific Reports
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A high mutation load of m.14597A>G in MT-ND6 causes Leigh syndrome.

2021 Scientific Reports
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Macroscopic characteristics of the native liver in children with MPV17-related mitochondrial DNA depletion syndrome: an indication for performing liver transplantation?

2021 Liver Transplantation
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Biallelic COA7-Variants Leading to Developmental Regression With Progressive Spasticity and Brain Atrophy in a Chinese Patient

2021 Frontiers in Genetics
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Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis.

2021 Archives of Disease in Childhood-fetal and Neonatal Edition
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Hepcidin Levels and Pathological Characteristics in Children with Fatty Liver Disease

2021 Pediatric Gastroenterology, Hepatology & Nutrition
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Whole exome sequencing identifies a novel homozygous MECR mutation in a Chinese patient with childhood-onset dystonia and basal ganglia abnormalities, without optic atrophy

2021 Mitochondrion
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Mortality of Japanese patients with Leigh syndrome: effects of age at onset and genetic diagnosis

2020 Journal of Inherited Metabolic Disease
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Two cases of a non-progressive hepatic form of glycogen storage disease type IV with atypical liver pathology

2020 Molecular genetics and metabolism reports
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