Associated Papers
Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.
Pierce SE et al.
Nature, 2025
Improving newborn screening accuracy through genome sequencing, targeted metabolomics, and machine learning.
Xie Y et al.
Bmc Medical Genomics, 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
Long-term follow-up of Chinese patients with methylmalonic acidemia of the cblC and mut subtypes.
Hao L et al.
Pediatric Research, 2025
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
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
A regionally adapted HRM-based technique to screen MMACHC carriers for methylmalonic acidemia with homocystinuria in Shandong Province, China.
Yang H et al.
Intractable & Rare Diseases Research, 2023
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.
Kingsmore SF et al.
American Journal of Human Genetics, 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
Analysis of 70 patients with hydrocephalus due to cobalamin C deficiency.
He R et al.
Neurology, 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Combinations of exonic deletions and rare mutations lead to misdiagnosis of propionic acidemia.
Wang H et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2020
High-dose hydroxocobalamin achieves biochemical correction and improvement of neuropsychiatric deficits in adults with late onset cobalamin C deficiency.
Higashimoto T et al.
Jimd Reports, 2020
Combining newborn metabolic and DNA analysis for second-tier testing of methylmalonic acidemia.
Peng G et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
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
Efficacy of early treatment in patients with cobalamin C disease identified by newborn screening: a 16-year experience.
Ahrens-Nicklas RC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Ocular disease in the cobalamin C defect: a review of the literature and a suggested framework for clinical surveillance.
Weisfeld-Adams JD et al.
Molecular Genetics and Metabolism, 2015
Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria.
Liu MY et al.
Journal of Human Genetics, 2010
Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC).
Richard E et al.
Human Mutation, 2009
Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.
Lerner-Ellis JP et al.
Human Mutation, 2009
Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations.
Morel CF et al.
Molecular Genetics and Metabolism, 2006
Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.
Lerner-Ellis JP et al.
Nature Genetics, 2006