Associated Papers
Full recovery of vision following early and intensive hemodialysis in an 18-year-old woman with methylmalonic acidemia-related optic neuropathy.
Guertin A et al.
Molecular Genetics and Metabolism Reports, 2025
Ophthalmologic findings in a patient with methylmalonic acidemia and the N219Y mutase mutation.
Rabinovich M et al.
Archivos De La Sociedad Espanola De Oftalmologia, 2025
Mitochondrial dysfunction drives a neuronal exhaustion phenotype in methylmalonic aciduria.
Denley MCS et al.
Communications Biology, 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
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
Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.
Kiewiet G et al.
International Journal of Neonatal Screening, 2024
Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency.
Forny P et al.
Nature Metabolism, 2023
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
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
Mitochondrial disease, mitophagy, and cellular distress in methylmalonic acidemia.
Luciani A et al.
Cellular and Molecular Life Sciences : Cmls, 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
Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemia
Şeker Yılmaz B et al.
Turkish Journal of Medical Sciences, 2021
Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns.
Pajares S et al.
Orphanet Journal of Rare Diseases, 2021
Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut.
Hörster F et al.
Journal of Inherited Metabolic Disease, 2021
Epilepsy syndromes, etiologies, and the use of next-generation sequencing in epilepsy presenting in the first 2 years of life: A population-based study.
Stödberg T et al.
Epilepsia, 2020
A study on a cohort of 301 Chinese patients with isolated methylmalonic acidemia.
Kang L et al.
Journal of Inherited Metabolic Disease, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 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
Liver neoplasms in methylmalonic aciduria: An emerging complication.
Forny P et al.
Journal of Inherited Metabolic Disease, 2019
Differential Intraoperative Effect of Liver Transplant in Different Inborn Errors of Metabolism.
Porta F et al.
Journal of Pediatric Gastroenterology and Nutrition, 2019
Mutation analysis of genes related to methylmalonic acidemia: identification of eight novel mutations.
Keyfi F et al.
Molecular Biology Reports, 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
Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias.
Stojiljkovic M et al.
Clinical Genetics, 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
Analysis of Novel Mutations and Methylmalonyl-CoA Mutase Levels in Thai Patients with Isolated Methylmalonic Acidemia.
Sawangareetrakul P et al.
Biochemical Genetics, 2015
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
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
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
Microarray based mutational analysis of patients with methylmalonic acidemia: identification of 10 novel mutations.
Dündar H et al.
Molecular Genetics and Metabolism, 2012
Development of transgenic mice containing an introduced stop codon on the human methylmalonyl-CoA mutase locus.
Buck NE et al.
Plos One, 2012
Mutation Profile of the MUT Gene in Chinese Methylmalonic Aciduria Patients.
Liu MY et al.
Jimd Reports, 2012
The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America.
Pérez B et al.
Journal of Inherited Metabolic Disease, 2010
Pseudoexon exclusion by antisense therapy in methylmalonic aciduria (MMAuria).
Pérez B et al.
Human Mutation, 2009
Long-term outcome in methylmalonic aciduria: a series of 30 French patients.
Cosson MA et al.
Molecular Genetics and Metabolism, 2009
[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
Causes of and diagnostic approach to methylmalonic acidurias.
Fowler B et al.
Journal of Inherited Metabolic Disease, 2008
[Gene mutation analysis in patients with propionic acidemia].
Hu YH et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2008
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
Mutation and haplotype analyses of the MUT gene in Japanese patients with methylmalonic acidemia.
Sakamoto O et al.
Journal of Human Genetics, 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