Associated Papers
Accelerating the diagnosis of Chinese cblC type MMA patients by multiplex PCR sequencing method.
Zheng P et al.
Pediatric Research, 2025
Mutation spectrum and genotype-phenotype correlation of pediatric patients with methylmalonic acidemia.
Lu F 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
38070096 (PubMed )
Supplement: 12519_2023_770_MOESM2_ESM.pdf
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
Clinical and Molecular Genetic Analysis with Methylmalonic Acidemia Combined with Homocystinuria.
Gan X et al.
Clinical Laboratory, 2024
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
36056359 (PubMed )
Supplement: 13023_2022_2471_MOESM1_ESM.xls › Detailed_data_of_every_patient
Prenatal diagnosis of methylmalonic aciduria from amniotic fluid using genetic and biochemical approaches.
Ji X et al.
Prenatal Diagnosis, 2019
Distinct clinical, neuroimaging and genetic profiles of late-onset cobalamin C defects (cb1C): a report of 16 Chinese cases.
Wang X et al.
Orphanet Journal of Rare Diseases, 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
Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.
Lerner-Ellis JP et al.
Nature Genetics, 2006
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