Associated Papers
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 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
Multiomic analysis in fibroblasts of patients with inborn errors of cobalamin metabolism reveals concordance with clinical and metabolic variability.
Wiedemann A et al.
Ebiomedicine, 2024
Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency.
Forny P et al.
Nature Metabolism, 2023
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
Mitochondrial disease, mitophagy, and cellular distress in methylmalonic acidemia.
Luciani A et al.
Cellular and Molecular Life Sciences : Cmls, 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
A study on a cohort of 301 Chinese patients with isolated methylmalonic acidemia.
Kang L et al.
Journal of Inherited Metabolic Disease, 2020
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
Readthrough strategies for therapeutic suppression of nonsense mutations in inherited metabolic disease.
Pérez B et al.
Molecular Syndromology, 2012
Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of seven novel mutations.
Lempp TJ et al.
Molecular Genetics and Metabolism, 2007
Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype.
Worgan LC et al.
Human Mutation, 2006
Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene.
Acquaviva C et al.
Human Mutation, 2005
Molecular studies in mutase-deficient (MUT) methylmalonic aciduria: identification of five novel mutations.
Peters HL et al.
Human Mutation, 2002