Associated Papers
Mutation spectrum and genotype-phenotype correlation of pediatric patients with methylmalonic acidemia.
Lu F et al.
Pediatric Research, 2025
Correlation between toxic organic acid fluctuations and neurodevelopment in patients with methylmalonic acidemia.
Ling IC et al.
Orphanet Journal of Rare Diseases, 2025
Expanded newborn screening for inborn errors of metabolism and genetic variants in Xinjiang, China.
Zhang H et al.
Frontiers in Genetics, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Improving methylmalonic acidemia (MMA) screening and MMA genotype prediction using random forest classifier in two Chinese populations.
Yin Z et al.
European Journal of Medical Research, 2024
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
Clinical outcomes of patients with mut-type methylmalonic acidemia identified through expanded newborn screening in China.
Ling S et al.
Human Genomics, 2024
Comparative analysis of inherited metabolic diseases in normal newborns and high-risk children: Insights from a 10-year study in Shanghai.
Zhang X et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 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
Genetic analysis of isolated methylmalonic acidemia in Henan, China: c.1663G>A variant of MMUT prevalent in the Henan population.
Guo Y et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024
Screening of 1.17 million newborns for inborn errors of metabolism using tandem mass spectrometry in Shanghai, China: A 19-year report.
Hao L et al.
Molecular Genetics and Metabolism, 2024
Spectrum analysis of inborn errors of metabolism for expanded newborn screening in Xinjiang, China.
Zhu J et al.
Peerj, 2024
Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases.
Liang L et al.
Journal of Medical Genetics, 2023
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
A retrospective analysis of MS/MS screening for IEM in high-risk areas.
He X et al.
Bmc Medical Genomics, 2023
Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency.
Forny P et al.
Nature Metabolism, 2023
Methylmalonic acidemia: Neurodevelopment and neuroimaging.
Chen T et al.
Frontiers in Neuroscience, 2023
[Differential diagnosis of a Chinese pedigree with methylmalonic acidemia by next-generation sequencing].
Zhao G et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2022
Clinical and genetic spectrum of 355 Chinese children with epilepsy: a trio-sequencing-based study.
Duan J et al.
Brain : a Journal of Neurology, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
Clinical application of NGS-based SNP haplotyping for PGT-M of methylmalonic acidemia.
He B et al.
Systems Biology in Reproductive 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
Impaired Function of a Rare Mutation in the MMUT Gene Causes Methylmalonic Acidemia in a Chinese Patient.
Dai S et al.
Genetics Research, 2022
Expanded newborn screening for inherited metabolic disorders by tandem mass spectrometry in a northern Chinese population.
Zhang H et al.
Frontiers in Genetics, 2022
Different mutations in the MMUT gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut-type methylmalonic acidemia: A retrospective study.
Yu Y et al.
Molecular Genetics & Genomic Medicine, 2021
Spectrum analysis of inborn errors of metabolism for expanded newborn screening in a northwestern Chinese population.
Zhang R et al.
Scientific Reports, 2021
A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients.
Liang L et al.
Orphanet Journal of Rare Diseases, 2021
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical Genetics, 2020
[The phenotypes and genotypes in 314 patients with isolated methylmalonic acidemia].
Kang LL et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2020
A study on a cohort of 301 Chinese patients with isolated methylmalonic acidemia.
Kang L et al.
Journal of Inherited Metabolic Disease, 2020
Clinical presentation, molecular analysis and follow-up of patients with mut methylmalonic acidemia in Shandong province, China.
Han B et al.
Pediatrics and Neonatology, 2020
Genetic aetiology of early infant deaths in a neonatal intensive care unit.
Yang L et al.
Journal of Medical Genetics, 2020
Prenatal diagnosis of methylmalonic aciduria from amniotic fluid using genetic and biochemical approaches.
Ji X et al.
Prenatal Diagnosis, 2019
[Clinical features and gene mutation spectrum in children with sideroblastic anemia].
An WB et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2019
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
Mutation analysis of genes related to methylmalonic acidemia: identification of eight novel mutations.
Keyfi F et al.
Molecular Biology Reports, 2019
Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population.
Wang T et al.
Frontiers in Genetics, 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
[Analysis of MUT gene mutations and prenatal diagnosis for 20 pedigrees affected with isolated methylmalonic aciduria].
Hu S et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2018
[Mutation analysis for a methylmalonic acidemia pedigree without proband by high-throughput sequencing].
Cao P et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2018
Methylmalonic acidemia: Current status and research priorities.
Zhou X et al.
Intractable & Rare Diseases Research, 2018
Eight novel MUT loss-of-function missense mutations in Chinese patients with isolated methylmalonic academia.
Han LS et al.
World Journal of Pediatrics : Wjp, 2017
[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
Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT.
Forny P et al.
Human Mutation, 2016
Clinical features and MUT gene mutation spectrum in Chinese patients with isolated methylmalonic acidemia: identification of ten novel allelic variants.
Han LS et al.
World Journal of Pediatrics : Wjp, 2015
Biochemical, molecular and outcome analysis of eight chinese asymptomatic individuals with methyl malonic acidemia detected through newborn screening.
Han L et al.
American Journal of Medical Genetics. Part A, 2015