Associated Papers
Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.
Pierce SE et al.
Nature, 2025
Accelerating the diagnosis of Chinese cblC type MMA patients by multiplex PCR sequencing method.
Zheng P et al.
Pediatric Research, 2025
Analysis of hydroxocobalamin dosage in patients with CblC deficiency.
Ding S et al.
Orphanet Journal of Rare Diseases, 2025
Variable phenotypes and outcomes associated with the MMACHC c.1A>G variant in Chinese patients with combined methylmalonic acidemia and homocystinuria cblC type.
Hao L et al.
Molecular Genetics and Metabolism, 2025
Mutation spectrum and genotype-phenotype correlation of pediatric patients with methylmalonic acidemia.
Lu F et al.
Pediatric Research, 2025
Long-term follow-up of Chinese patients with methylmalonic acidemia of the cblC and mut subtypes.
Hao L et al.
Pediatric Research, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Variable phenotypes and outcomes associated with the MMACHC c.482G > A mutation: follow-up in a large CblC disease cohort.
Wu SN et al.
World Journal of Pediatrics : Wjp, 2024
Whole-exome sequencing as the first-tier test for patients in neonatal intensive care unit: a Chinese single-center study.
Zhang R et al.
Bmc Pediatrics, 2024
Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study.
Su L et al.
Orphanet Journal of Rare Diseases, 2024
Haplotype-based noninvasive prenatal diagnosis of methylmalonic acidemia and the discovery of a recurrent pathogenic haplotype associated with c.609G>A.
Fu X et al.
Prenatal Diagnosis, 2023
Characteristics, differential diagnosis, individualized treatment, and prevention of hyperhomocysteinemia in newborns.
Li YY et al.
European Journal of Medical Genetics, 2023
Multi-omics analysis identifies osteosarcoma subtypes with distinct prognosis indicating stratified treatment.
Jiang Y et al.
Nature Communications, 2022
Late-onset cblC deficiency around puberty: a retrospective study of the clinical characteristics, diagnosis, and treatment.
Chen Z et al.
Orphanet Journal of Rare Diseases, 2022
Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin B12 metabolism: A meta-analysis.
Wiedemann A et al.
Cell Reports. Medicine, 2022
A pilot study of assessing whole genome sequencing in newborn screening in unselected children in China.
Jian M et al.
Clinical and Translational Medicine, 2022
A capillary electrophoresis-based multiplex PCR assay for expanded carrier screening in the eastern Han Chinese population.
Hu P et al.
Npj Genomic Medicine, 2022
Noninvasive prenatal diagnosis of monogenic disorders based on direct haplotype phasing through targeted linked-read sequencing.
Chen C et al.
Bmc Medical Genomics, 2021
Spectrum analysis of inborn errors of metabolism for expanded newborn screening in a northwestern Chinese population.
Zhang R et al.
Scientific Reports, 2021
Tandem Mass Spectrometry Screening for Inborn Errors of Metabolism in Newborns and High-Risk Infants in Southern China: Disease Spectrum and Genetic Characteristics in a Chinese Population.
Tan J et al.
Frontiers in Genetics, 2021
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
Rapid screening of MMACHC gene mutations by high-resolution melting curve analysis.
Wang C et al.
Molecular Genetics & Genomic Medicine, 2020
Noninvasive prenatal diagnosis of cobalamin C (cblC) deficiency through target region sequencing of cell-free DNA in maternal plasma.
Han L et al.
Prenatal Diagnosis, 2020
A 7-Year Report of Spectrum of Inborn Errors of Metabolism on Full-Term and Premature Infants in a Chinese Neonatal Intensive Care Unit.
Zhang W et al.
Frontiers in Genetics, 2019
Molecular genetic characterization of cblC defects in 126 pedigrees and prenatal genetic diagnosis of pedigrees with combined methylmalonic aciduria and homocystinuria.
Hu S et al.
Bmc Medical Genetics, 2018
Expanded Newborn Screening for Inborn Errors of Metabolism and Genetic Characteristics in a Chinese Population.
Guo K et al.
Frontiers in Genetics, 2018
[Acute brainstem encephalitis and myelitis in a girl with isolated methylmalonic aciduria due to MUT gene defect].
Liu YP et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2015
First Chinese case of successful pregnancy with combined methylmalonic aciduria and homocystinuria, cblC type.
Liu Y et al.
Brain & Development, 2015
[A Chinese boy with methylmalonic aciduria cblB type and a novel mutation in the MMAB gene].
Liu YP et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2015
[Acute encephalopathy induced by vaccination in an infant with methylmalonic aciduria cblA].
Liu Y et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2015
[Advances in the clinical and laboratory studies on methylmalonic aciduria combined with homocysteinemia type cblC].
Liu YP et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2013
[Abnormal findings during newborn period of 160 patients with early-onset methylmalonic aciduria].
Liu YP et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2012
Clinical, biochemical, and molecular analysis of combined methylmalonic acidemia and hyperhomocysteinemia (cblC type) in China.
Wang F et al.
Journal of Inherited Metabolic Disease, 2010
Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria.
Liu MY et al.
Journal of Human Genetics, 2010