Associated Papers
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
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
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
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
Liver neoplasms in methylmalonic aciduria: An emerging complication.
Forny P et al.
Journal of Inherited Metabolic Disease, 2019
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
Analysis of Novel Mutations and Methylmalonyl-CoA Mutase Levels in Thai Patients with Isolated Methylmalonic Acidemia.
Sawangareetrakul P et al.
Biochemical Genetics, 2015
Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiency.
Forny P et al.
Human Mutation, 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
The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America.
Pérez B et al.
Journal of Inherited Metabolic Disease, 2010
Long-term outcome in methylmalonic aciduria: a series of 30 French patients.
Cosson MA et al.
Molecular Genetics and Metabolism, 2009
Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group.
Merinero B et al.
Journal of Inherited Metabolic Disease, 2008
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
Three novel and six common mutations in 11 patients with methylmalonic acidemia.
Kobayashi A et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2006
Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype.
Worgan LC et al.
Human Mutation, 2006
Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants.
Martínez MA et al.
Molecular Genetics and Metabolism, 2005
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 and structural analysis of two novel mutations in a patient with mut(-) methylmalonyl-CoA deficiency.
Benoist JF et al.
Molecular Genetics and Metabolism, 2001
mut0 methylmalonic acidemia: eleven novel mutations of the methylmalonyl CoA mutase including a deletion-insertion mutation.
Fuchshuber A et al.
Human Mutation, 2000
Seven novel mutations in mut methylmalonic aciduria.
Adjalla CE et al.
Human Mutation, 1998
Liver hepatoblastoma and multiple OXPHOS deficiency in the follow-up of a patient with methylmalonic aciduria.
Cosson MA et al.
Molecular Genetics and Metabolism, 0