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.1A>G variant in Chinese patients with combined methylmalonic acidemia and homocystinuria cblC type.
Hao L et al.
Molecular Genetics and Metabolism, 2025
Mutation spectrum and genotype-phenotype correlation of pediatric patients with methylmalonic acidemia.
Lu F et al.
Pediatric Research, 2025
[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
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
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
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
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
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
A pilot study of assessing whole genome sequencing in newborn screening in unselected children in China.
Jian M et al.
Clinical and Translational Medicine, 2022
Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.
Chau JFT et al.
Npj Genomic Medicine, 2022
Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists.
Kalantari S et al.
Orphanet Journal of Rare Diseases, 2022
A capillary electrophoresis-based multiplex PCR assay for expanded carrier screening in the eastern Han Chinese population.
Hu P et al.
Npj Genomic Medicine, 2022
Late-onset cobalamin C disease presenting with acute cerebellar ataxia.
Wei Y et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
Rapid screening of MMACHC gene mutations by high-resolution melting curve analysis.
Wang C et al.
Molecular Genetics & Genomic Medicine, 2020
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
Newborn Screening for Methylmalonic Acidemia in a Chinese Population: Molecular Genetic Confirmation and Genotype Phenotype Correlations.
Zhou W et al.
Frontiers in Genetics, 2018
[Gene mutation analysis and prenatal diagnosis of four pedigrees with methymalonic aciduria].
Pan YC et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2016
Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy.
Huemer M et al.
Orphanet Journal of Rare Diseases, 2014
A clinical and gene analysis of late-onset combined methylmalonic aciduria and homocystinuria, cblC type, in China.
Wang X et al.
Journal of the Neurological Sciences, 2012
Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria.
Liu MY et al.
Journal of Human Genetics, 2010
[Neurological presentation of late-onset methylomalic aciduria].
Wang XL et al.
Zhonghua Nei Ke Za Zhi, 2009
Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.
Lerner-Ellis JP et al.
Human Mutation, 2009
[Analysis of gene mutations in Chinese patients with methylmalonic acidemia and homocysteinemia].
Wang F et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2009
Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type).
Heil SG et al.
Journal of Inherited Metabolic Disease, 2007
Dissecting the role of vitamin B12 metabolism in craniofacial development through analysis of clinical phenotypes and model organism discoveries.
Pinales BE et al.
Differentiation; Research in Biological Diversity, 0