Associated Papers
Improving newborn screening accuracy through genome sequencing, targeted metabolomics, and machine learning.
Xie Y et al.
Bmc Medical Genomics, 2025
Mutation spectrum and genotype-phenotype correlation of pediatric patients with methylmalonic acidemia.
Lu F et al.
Pediatric Research, 2025
Methylmalonic acidemia with recurrent hemophagocytic lymphohistiocytosis: a case report and review of the literature.
Yamashita F et al.
Bmc Pediatrics, 2025
The Arg108Cys Variant of Methylmalonyl-CoA Mutase: Clinical Implications for the Mexican Population Based on Molecular Dynamics and Docking.
Vela-Amieva M et al.
International Journal of Molecular Sciences, 2025
An evaluation of genetic predisposition to congenital anomalies and pediatric cancer supports KAT6B as a novel neuroblastoma susceptibility gene.
Gu H et al.
Genetics in Medicine Open, 2025
Identification of a biallelic MMUT variant (p.Thr230Arg) and its global perspective on clinical management.
Mansoor S et al.
Molecular Biology Reports, 2024
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Isolated methylmalonic acidemia in Mexico: Genotypic spectrum, report of two novel MMUT variants and a possible synergistic heterozygosity effect.
Fernández-Lainez C et al.
Molecular Genetics and Metabolism Reports, 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
Identification of Novel Mutations in the MMAA and MUT Genes among Methylmalonic Aciduria Families.
Jafari M et al.
Iranian Biomedical Journal, 2023
Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency.
Forny P et al.
Nature Metabolism, 2023
Treatment of metabolic disorders using genomic technologies: Lessons from methylmalonic acidemia.
Venturoni LE et al.
Journal of Inherited Metabolic Disease, 2022
Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.
Martín-Rivada Á et al.
Jimd Reports, 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
Impaired Function of a Rare Mutation in the MMUT Gene Causes Methylmalonic Acidemia in a Chinese Patient.
Dai S et al.
Genetics Research, 2022
In vivo genome editing at the albumin locus to treat methylmalonic acidemia.
Schneller JL et al.
Molecular Therapy. Methods & Clinical Development, 2021
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
1-13C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA).
Manoli I et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Nutritional Management and Biochemical Outcomes during the Immediate Phase after Liver Transplant for Methylmalonic Acidemia.
Siegel C et al.
Nutrients, 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
[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
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
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
Mutation Analyses in Selected Exons of the MUT Gene in Indian Patients with Methylmalonic Acidemia.
Kumari C et al.
Indian Journal of Clinical Biochemistry : Ijcb, 2017
Renal cell carcinoma harboring somatic TSC2 mutations in a child with methylmalonic acidemia.
Potter SL et al.
Pediatric Blood & Cancer, 2017
A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening.
Park KJ et al.
Annals of Laboratory Medicine, 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
Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations.
Chu J et al.
Molecular Genetics and Metabolism, 2016
Successful Domino Liver Transplantation from a Patient with Methylmalonic Acidemia.
Khanna A et al.
Jimd Reports, 2016
Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia.
Imtiaz F et al.
Jimd Reports, 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
Mutation analysis of methylmalonyl CoA mutase gene exon 2 in Egyptian families: Identification of 25 novel allelic variants.
Ghoraba DA et al.
Meta Gene, 2015
Noninvasive prenatal diagnosis in a fetus at risk for methylmalonic acidemia.
Gu W et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2014
Prevention of metabolic decompensation in an infant with mutase deficient methylmalonic aciduria undergoing cardiopulmonary bypass.
Wang RY et al.
World Journal of Pediatrics : Wjp, 2014
Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias.
Nizon M et al.
Orphanet Journal of Rare Diseases, 2013
Mutational analysis of the GALT gene in Filipino patients.
Estrada SC et al.
The Kobe Journal of Medical Sciences, 2013
[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
[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
Mutation and haplotype analyses of the MUT gene in Japanese patients with methylmalonic acidemia.
Sakamoto O et al.
Journal of Human Genetics, 2007