Associated Papers
Accelerating the diagnosis of Chinese cblC type MMA patients by multiplex PCR sequencing method.
Zheng P 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
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
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
Rapid screening of MMACHC gene mutations by high-resolution melting curve analysis.
Wang C et al.
Molecular Genetics & Genomic Medicine, 2020
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