Associated Papers
Accelerating the diagnosis of Chinese cblC type MMA patients by multiplex PCR sequencing method.
Zheng P et al.
Pediatric Research, 2025
Analysis of hydroxocobalamin dosage in patients with CblC deficiency.
Ding S et al.
Orphanet Journal of Rare Diseases, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Mutation spectrum and genotype-phenotype correlation of pediatric patients with methylmalonic acidemia.
Lu F et al.
Pediatric Research, 2025
Clinical diagnosis, treatment, and genetic analysis of adolescent onset holocarboxylase synthetase deficiency and cobalamin C deficiency: A case report and literature review.
Ren Y et al.
Metabolism Open, 2025
Long-term follow-up of Chinese patients with methylmalonic acidemia of the cblC and mut subtypes.
Hao L et al.
Pediatric Research, 2025
Expanded newborn screening for inborn errors of metabolism and genetic variants in Xinjiang, China.
Zhang H et al.
Frontiers in Genetics, 2025
Retrospective analysis of diagnosis and treatment in 9 cases of childhood-onset methylmalonic acidemia in China.
Fan C et al.
Frontiers in Neurology, 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
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
Concurrent combined methylmalonic acidemia and homocystinuria with down syndrome in a Chinese preschool Child: An in-depth case report and literature review.
Dong R et al.
Heliyon, 2024
Whole-exome sequencing as the first-tier test for patients in neonatal intensive care unit: a Chinese single-center study.
Zhang R et al.
Bmc Pediatrics, 2024
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
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Spectrum analysis of inborn errors of metabolism for expanded newborn screening in Xinjiang, China.
Zhu J et al.
Peerj, 2024
Haplotype-based noninvasive prenatal diagnosis of methylmalonic acidemia and the discovery of a recurrent pathogenic haplotype associated with c.609G>A.
Fu X et al.
Prenatal Diagnosis, 2023
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
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
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
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
The QChip1 knowledgebase and microarray for precision medicine in Qatar.
Rodriguez-Flores JL et al.
Npj Genomic Medicine, 2022
Prenatal Diagnosis of Two Common Inborn Errors of Metabolism by Genetic and Mass Spectrometric Analysis of Amniotic Fluid.
Shi C et al.
Frontiers in Pediatrics, 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
Prenatal diagnosis of combined methylmalonic acidemia and homocystinuria cobalamin C type using clinical exome sequencing and targeted gene analysis.
Hwang N et al.
Molecular Genetics & Genomic Medicine, 2021
Cruxome: a powerful tool for annotating, interpreting and reporting genetic variants.
Han Q et al.
Bmc Genomics, 2021
[Clinical and genetic studies on 76 patients with hydrocephalus caused by methylmalonic acidemia combined with homocysteinuria].
He RX et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2021
Spectrum analysis of inborn errors of metabolism for expanded newborn screening in a northwestern Chinese population.
Zhang R et al.
Scientific Reports, 2021
Noninvasive Prenatal Testing of Methylmalonic Acidemia cblC Type Using the cSMART Assay for MMACHC Gene Mutations.
Lv W et al.
Frontiers in Genetics, 2021
Analysis of 70 patients with hydrocephalus due to cobalamin C deficiency.
He R et al.
Neurology, 2020
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
Late-onset cobalamin C disease presenting with acute progressive polyneuropathy.
Wei Y et al.
Muscle & Nerve, 2020
Noninvasive prenatal diagnosis of cobalamin C (cblC) deficiency through target region sequencing of cell-free DNA in maternal plasma.
Han L et al.
Prenatal Diagnosis, 2020
Peripheral Nervous System Involvement in Late-Onset Cobalamin C Disease?
Chu X et al.
Frontiers in Neurology, 2020
Clinical utility in infants with suspected monogenic conditions through next-generation sequencing.
Hong S et al.
Molecular Genetics & Genomic Medicine, 2019
Hydrocephalus in cblC type methylmalonic acidemia.
Zhang K et al.
Metabolic Brain Disease, 2019
Clinical feature and outcome of late-onset cobalamin C disease patients with neuropsychiatric presentations: a Chinese case series.
Wang SJ et al.
Neuropsychiatric Disease and Treatment, 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
Expanded Newborn Screening for Inborn Errors of Metabolism and Genetic Characteristics in a Chinese Population.
Guo K 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
Clinical characteristics of hemolytic uremic syndrome secondary to cobalamin C disorder in Chinese children.
Li QL et al.
World Journal of Pediatrics : Wjp, 2015
Prenatal diagnosis using genetic sequencing and identification of a novel mutation in MMACHC.
Zong Y et al.
Bmc Medical Genetics, 2015
Clinical presentation and outcome in a series of 88 patients with the cblC defect.
Fischer S et al.
Journal of Inherited Metabolic Disease, 2014
Proteomics of vitamin B12 processing.
Hannibal L et al.
Clinical Chemistry and Laboratory Medicine, 2013