Associated Papers
A novel and accessible proband-free approach for noninvasive prenatal diagnosis of single-gene disorders.
Chen C et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2026
Reversible Pulmonary Hypertension in CblC Deficiency (MMACHC c.80 A>G): long-term outcomes of metabolic and PH-targeted therapy.
He R et al.
Pediatric Research, 2025
Comparative genetic analysis of blood and semen samples in sperm donors from Hunan, China.
Huang C et al.
Annals of Medicine, 2025
Generation of a transgenic pluripotent stem cell line expressing MMACHC protein harbouring the renal 2 thrombotic microangiopapathy-causing mutation (p.Q27R).
Zhou Z et al.
Stem Cell Research, 2025
Clinical and genetic characteristics of late-onset cobalamin C deficiency: A multicenter study in northern China.
Zhang H et al.
Intractable & Rare Diseases Research, 2025
Improving newborn screening accuracy through genome sequencing, targeted metabolomics, and machine learning.
Xie Y et al.
Bmc Medical Genomics, 2025
Targeted genetic screening for identifying carrier status and early-onset disease risks in Chinese newborns.
Hao C et al.
Communications Medicine, 2025
Global developmental delay: comparison of developmental profiles between gene-positive/suspicious positive and gene-negative cases.
Shan L et al.
Pediatric Research, 2025
Adolescent-onset hyperhomocysteinaemia: cases report and literature review.
Li Y et al.
Neurocase, 2025
First pathogenic non-coding variant in MMACHC: a functional deletion in the 5'-UTR associated with cobalamin C deficiency.
Zhang Y et al.
Molecular Biology Reports, 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
Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease.
Malhotra A et al.
Hgg Advances, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
Pang N et al.
Bmc Medicine, 2025
Mutation spectrum and genotype-phenotype correlation of pediatric patients with methylmalonic acidemia.
Lu F et al.
Pediatric Research, 2025
A case report of combined methylmalonic acidemia and homocysteinemia presented with cerebral sinus thrombosis and fluctuating cognitive impairment.
Wang J et al.
Medicine, 2025
Clinical diagnosis, treatment, and genetic analysis of adolescent onset holocarboxylase synthetase deficiency and cobalamin C deficiency: A case report and literature review.
Ren Y et al.
Metabolism Open, 2025
Long-term follow-up of Chinese patients with methylmalonic acidemia of the cblC and mut subtypes.
Hao L et al.
Pediatric Research, 2025
Correlation between toxic organic acid fluctuations and neurodevelopment in patients with methylmalonic acidemia.
Ling IC et al.
Orphanet Journal of Rare Diseases, 2025
Identification of novel variants in hereditary spherocytosis patients by whole-exome sequencing.
Qin L et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2025
Retrospective analysis of diagnosis and treatment in 9 cases of childhood-onset methylmalonic acidemia in China.
Fan C et al.
Frontiers in Neurology, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Improving methylmalonic acidemia (MMA) screening and MMA genotype prediction using random forest classifier in two Chinese populations.
Yin Z et al.
European Journal of Medical Research, 2024
[Analysis of the regional distribution differences of common variations of the MMACHC gene in cblC methylmalonic acidemia patients].
Deng YX et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2024
Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
Ding X et al.
Clinical and Translational Medicine, 2024
Clinical genome sequencing in patients with suspected rare genetic disease in Peru.
Bazalar-Montoya J et al.
Npj Genomic Medicine, 2024
Late-onset renal TMA and tubular injury in cobalamin C disease: a report of three cases and literature review.
Bao D et al.
Bmc Nephrology, 2024
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
Assessment the carrier frequency of monogenic diseases in populations requiring assisted reproductive technology.
Xu X et al.
Bmc Medical Genomics, 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
[Clinical features and follow-up study on 55 patients with adolescence-onset methylmalonic acidemia].
Ma X et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 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
Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry.
Tang C et al.
International Journal of Neonatal Screening, 2024
Genomic characteristics and immune landscape of super multiple primary lung cancer.
Yang Z et al.
Ebiomedicine, 2024
Adult-onset combined methylmalonic acidemia and hyperhomocysteinemia, cblC type with aortic dissection and acute kidney injury: a case report.
Hao Q et al.
Bmc Nephrology, 2024
Application of whole exome sequencing in carrier screening for high-risk families without probands.
Huang Q et al.
Frontiers in Genetics, 2024
Using metabolic abnormalities of carriers in the neonatal period to evaluate the pathogenicity of variants of uncertain significance in methylmalonic acidemia.
Xiao D et al.
Frontiers in Genetics, 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
Late-onset cblC defect: clinical, biochemical and molecular analysis.
Ding S et al.
Orphanet Journal of Rare Diseases, 2023
[Analysis of clinical phenotypes and MMACHC gene variants in 65 children with Methylmalonic acidemia and homocysteinemia].
Chen C et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2023
Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7-year study in eastern coastal areas of China.
Men S et al.
Molecular Genetics & Genomic Medicine, 2023