Associated Papers
Accelerating the diagnosis of Chinese cblC type MMA patients by multiplex PCR sequencing method.
Zheng P et al.
Pediatric Research, 2025
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
39380106 (PubMed )
Supplement: 40246_2024_680_MOESM1_ESM.xlsx › Supplementary_Table_3
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 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
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
35764087 (PubMed )
Supplement: mmc1.pdf
Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists.
Kalantari S et al.
Orphanet Journal of Rare Diseases, 2022
Case Report: Membranous Nephropathy Secondary to Cobalamin C Disease.
Wang Q et al.
Frontiers in Medicine, 2021
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
30209273 (PubMed )
Supplement: 41436_2018_272_MOESM7_ESM.xlsx › Supplementary_Table_1
Late-onset cobalamin C deficiency Chinese sibling patients with neuropsychiatric presentations.
Wang SJ et al.
Metabolic Brain Disease, 2018
Applying targeted next generation sequencing to dried blood spot specimens from suspicious cases identified by tandem mass spectrometry-based newborn screening.
Qian J et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2017
Clinical presentation, gene analysis and outcomes in young patients with early-treated combined methylmalonic acidemia and homocysteinemia (cblC type) in Shandong province, China.
Han B et al.
Brain & Development, 2016
Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria.
Liu MY et al.
Journal of Human Genetics, 2010
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