Tianyu Song

Beijing, 100044, China

Last Updated: 09/26/2026

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Found 14 publications

Non-Destructive Testing Technology for Shallow Subsurface Defects in Rails: A Review with Focus on Ultrasonic Surface Wave Methods.

Non-Destructive Testing Technology for Shallow Subsurface Defects in Rails: A Review with Focus on Ultrasonic Surface Wave Methods.

Journal: Sensors (Basel, Switzerland)

Published: June 29, 2026

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease.

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease.

Journal: Annals of clinical and translational neurology

Published: February 14, 2026

Clinical phenotype spectrum and prognostic analysis of DNM1L-related disorders: a single-center cohort study of 18 patients.

Clinical phenotype spectrum and prognostic analysis of DNM1L-related disorders: a single-center cohort study of 18 patients.

Journal: Frontiers in neurology

Published: January 19, 2026

Complex de novo tetrasomy and trisomy of 2p22.2 involving EIF2AK2 in a child with global developmental delay: a case report and literature review.

Complex de novo tetrasomy and trisomy of 2p22.2 involving EIF2AK2 in a child with global developmental delay: a case report and literature review.

Journal: Frontiers in pediatrics

Published: November 27, 2025

Clinical, metabolic, and genetic characteristics of 42 children with mitochondrial short-chain enoyl-CoA hydratase 1 deficiency in China.

Clinical, metabolic, and genetic characteristics of 42 children with mitochondrial short-chain enoyl-CoA hydratase 1 deficiency in China.

Journal: Molecular genetics and metabolism

Published: March 19, 2025

Preliminary investigation on the economic cost of mitochondrial disease in Chinese children.

Preliminary investigation on the economic cost of mitochondrial disease in Chinese children.

Journal: Orphanet journal of rare diseases

Published: December 30, 2024

Clinical characteristics and long-term prognosis of 150 children with MELAS syndrome in China.

Clinical characteristics and long-term prognosis of 150 children with MELAS syndrome in China.

Journal: Journal of neurology

Published: December 18, 2024

Effectiveness and safety of perampanel for pediatric patients with epilepsy: A real-world study from China.

Effectiveness and safety of perampanel for pediatric patients with epilepsy: A real-world study from China.

Journal: Pediatric investigation

Published: April 26, 2024

Establishment of an iPSC line (BCHNDi001-A) from a patient with nicotinamide nucleotide repair system deficiency caused by biallelic NAXD mutations.

Establishment of an iPSC line (BCHNDi001-A) from a patient with nicotinamide nucleotide repair system deficiency caused by biallelic NAXD mutations.

Journal: Stem cell research

Published: January 07, 2024

Long-term effectiveness and tolerability of ketogenic diet therapy in patients with genetic developmental and epileptic encephalopathy onset within the first 6 months of life.

Long-term effectiveness and tolerability of ketogenic diet therapy in patients with genetic developmental and epileptic encephalopathy onset within the first 6 months of life.

Journal: Epilepsia open

Published: July 17, 2023

Thiamine pyrophosphokinase deficiency: report of two Chinese cases and a literature review.

Thiamine pyrophosphokinase deficiency: report of two Chinese cases and a literature review.

Journal: Frontiers in pediatrics

Published: February 25, 2023

Identification and characterization of novel MPC1 gene variants causing mitochondrial pyruvate carrier deficiency.

Identification and characterization of novel MPC1 gene variants causing mitochondrial pyruvate carrier deficiency.

Journal: Journal of inherited metabolic disease

Published: October 05, 2021

Showing 1-12 of 14

Last Updated: 09/26/2026