Xin F. Duan

Beijing, China

Last Updated: 09/26/2026

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Found 40 publications

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

Genotype-Phenotype Correlations in Chinese Pediatric Patients With Single Large-Scale Mitochondrial DNA Deletion Disorders.

Genotype-Phenotype Correlations in Chinese Pediatric Patients With Single Large-Scale Mitochondrial DNA Deletion Disorders.

Journal: Clinical genetics

Published: August 01, 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

Novel mutations in MTERF3: First report of a new genetic cause in two Chinese patients with developmental delay, intermittent hypoglycemia and metabolic acidosis.

Novel mutations in MTERF3: First report of a new genetic cause in two Chinese patients with developmental delay, intermittent hypoglycemia and metabolic acidosis.

Journal: Mitochondrion

Published: February 21, 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

Novel pathogenic mtDNA variants in Chinese children with neurological mitochondrial disorders.

Novel pathogenic mtDNA variants in Chinese children with neurological mitochondrial disorders.

Journal: Annals of clinical and translational neurology

Published: July 05, 2024

Phenotypic spectrum of iron-sulfur cluster assembly gene IBA57 mutations: c.286 T > C identified as a hotspot mutation in Chinese patients with a stable natural history.

Phenotypic spectrum of iron-sulfur cluster assembly gene IBA57 mutations: c.286 T > C identified as a hotspot mutation in Chinese patients with a stable natural history.

Journal: Journal of human genetics

Published: March 10, 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

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

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Last Updated: 09/26/2026