Publications by authors named "Chaolong Xu"

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Novel mutations in MTERF3: First report of a new genetic cause in two Chinese patients with developmental delay, intermittent hypoglycemia and metabolic acidosis.
Ruoyu Duan, Refiloe Laurentinah Mahlatsi, Ya Wang, Chaolong Xu, Mingzhao Wang

Mitochondrion· November 2025

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Genotype-Phenotype Correlations in Chinese Pediatric Patients With Single Large-Scale Mitochondrial DNA Deletion Disorders.
Jun Wang, Minhan Song, Zhimei Liu, Chaolong Xu, Ying Zou

Clin Genet· October 2025

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Case Report: Biallelic variants in , encoding a component of the 2-oxoglutarate dehydrogenase complex, cause leigh syndrome.
Huafang Jiang, Chaolong Xu, Zhimei Liu, Ruoyu Duan, Xingfeng Yao, Jiatong Xu, Xuejing Kang

Front Pediatr· September 2025

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Clinical, metabolic, and genetic characteristics of 42 children with mitochondrial short-chain enoyl-CoA hydratase 1 deficiency in China.
Yang Liu, Danmin Shen, Tianyu Song, Chaolong Xu, Xin Duan

Mol Genet Metab· August 2025

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Association Between High-Sensitivity C-Reactive Protein Levels and Metabolic Dysfunction-Associated Steatotic Liver Disease and Liver Fibrosis Risk: A Study Based on NHANES Data.
Chaolong Xu, Kai Wang, Zhiming Peng, Peng Chen, Chengchen Zhang

Turk J Gastroenterol· June 2025

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Preliminary investigation on the economic cost of mitochondrial disease in Chinese children.
Chaolong Xu, Dan Zhao, Xin Duan, Zhimei Liu, Tongyue Li, Zixuan Zhang

Orphanet J Rare Dis· April 2025

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Novel pathogenic mtDNA variants in Chinese children with neurological mitochondrial disorders.
Zhimei Liu, Kexin Pan, Mingzhao Wang, Yijun Jin, Wenxin Yang, Chaolong Xu

Ann Clin Transl Neurol· March 2025

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Ectopic protein lysine methacrylation contributes to defects caused by loss of HIBCH or ECHS1.
Yawen Li, Ting Wu, Yaoyao Li, Chaolong Xu, Caixia Zhou

Cell Rep· March 2025

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Clinical characteristics and long-term prognosis of 150 children with MELAS syndrome in China.
Chaolong Xu, Sisi Dai, Huafang Jiang, Zhimei Liu, Yunxi Zhang, Zixuan Zhang

J Neurol· March 2025

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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.
Huafang Jiang, Chaolong Xu, Ruoyu Duan, Zhimei Liu, Xiaotun Ren

J Hum Genet· January 2025

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Establishment of an iPSC line (BCHNDi001-A) from a patient with nicotinamide nucleotide repair system deficiency caused by biallelic NAXD mutations.
Chaolong Xu, Ling Zhou, Huafang Jiang, Tianyu Song, Zhimei Liu

Stem Cell Res· April 2024

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Generation of an induced pluripotent stem cell line (BCHNCi003-A) from a patient with mitochondrial pyruvate carrier deficiency caused by biallelic MPC1 mutations.
Huafang Jiang, Chaolong Xu, Wenyan Li, Ling Zhou, Fang Fang

Stem Cell Res· October 2023

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Thiamine pyrophosphokinase deficiency: report of two Chinese cases and a literature review.
Dan Zhao, Ming Liu, Huafang Jiang, Tianyu Song, Chaolong Xu, Han Xu

Front Pediatr· August 2023

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