Tomohide Goto
Yokohama, Japan
Last Updated: 09/26/2026
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Found 54 publications
New Neuroimaging Findings in Enoyl-CoA Hydratase Short-Chain 1 (ECHS1) Deficiency.
Journal: Cureus
Published: January 17, 2026
Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders.
Journal: Journal of human genetics
Published: October 27, 2025
EIF2AK2-related hypomyelinating leukoencephalopathy presenting with congenital bilateral vocal cord paralysis and a spinal cord lesion.
Journal: Neurogenetics
Published: October 12, 2025
Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay.
Journal: NPJ genomic medicine
Published: March 11, 2025
Effects of SLC6A8 mutation-induced creatine deficiency on cellular function in fibroblasts.
Journal: Scientific reports
Published: February 28, 2025
Development of a novel liquid chromatography-tandem mass spectrometry based enzymatic assay of 5,10-methylenetetrahydrofolate reductase.
Journal: Scientific reports
Published: February 18, 2025
B-cell immunodeficiency associated with polynucleotide kinase 3'-phosphatase (PNKP) deficiency.
Journal: The journal of allergy and clinical immunology. Global
Published: January 22, 2025
Genotype-phenotype correlations and phenotypic expansion in a case series of ReNU syndrome associated with RNU4-2 variants.
Journal: Journal of medical genetics
Published: December 27, 2024
A case of acute promyelocytic leukemia complicated by mitochondrial disease.
Journal: International journal of hematology
Published: September 05, 2024
Successful treatment with teduglutide for an adolescent with cerebral palsy accompanied by short bowel syndrome.
Journal: Pediatrics international : official journal of the Japan Pediatric Society
Published: February 16, 2024
Last Updated: 09/26/2026