Associated Papers
Mutation spectrum and genotype-phenotype correlation of pediatric patients with methylmalonic acidemia.
Lu F et al.
Pediatric Research, 2025
Clinical outcomes of patients with mut-type methylmalonic acidemia identified through expanded newborn screening in China.
Ling S et al.
Human Genomics, 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
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
A retrospective analysis of MS/MS screening for IEM in high-risk areas.
He X et al.
Bmc Medical Genomics, 2023
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
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
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
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
[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
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
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
[Analysis of GALNS gene mutation in thirty-eight Chinese patients with mucopolysaccharidosis type IVA].
Ye J et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2013
Mutation Profile of the MUT Gene in Chinese Methylmalonic Aciduria Patients.
Liu MY et al.
Jimd Reports, 2012
Clinical characteristics and gene mutation analysis of methylmalonic aciduria.
Yi Q et al.
Journal of Huazhong University of Science and Technology. Medical Sciences = Hua Zhong Ke Ji Da Xue Xue Bao. Yi Xue Ying De Wen Ban = Huazhong Keji Daxue Xuebao. Yixue Yingdewen Ban, 2011
[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
[Clinical and mutational study of a Chinese infant with isovaleric acidemia].
Qiu WJ et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2008
[Gene mutation analysis in patients with propionic acidemia].
Hu YH et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2008