Associated Papers
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.
Gorman E et al.
Frontiers in Genetics, 2025
Clinical and Molecular Spectrum of Patients with Methylmalonic Acidemia.
Gupta N et al.
Indian Journal of Pediatrics, 2024
Very late onset methylmalonic acidemia (cblB type) as a cause of status epilepticus, leukoencephalopathy and myelopathy.
Bayat M et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024
Living-donor liver transplantation for methylmalonic acidemia patient with hepatocellular carcinoma: A case report and literature review.
Deguchi H et al.
Pediatric Transplantation, 2024
Non-Hodgkin lymphoma in a kidney transplanted patient with methylmalonic acidemia: Metabolic susceptibility and the role of immunosuppression.
Burlina AB et al.
Jimd Reports, 2024
Disease spectrum, prevalence, genetic characteristics of inborn errors of metabolism in 21,840 hospitalized infants in Chongqing, China, 2017-2022.
Wang D et al.
Frontiers in Genetics, 2024
Identifying and predicting the pathogenic effects of a novel variant inducing severe early onset MMA: a bioinformatics approach.
Maryami F et al.
Hereditas, 2023
Refractory Myoclonus as a Presentation of Metabolic Stroke in A Child With Cobalamin B Methylmalonic Acidemia After Liver and Kidney Transplant.
Olson V et al.
Journal of Movement Disorders, 2022
Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria.
Forny P et al.
Human Genetics, 2022
Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report.
Brennerová K et al.
Bmc Pediatrics, 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
Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?
Haijes HA et al.
Journal of Inherited Metabolic Disease, 2020
Liver neoplasms in methylmalonic aciduria: An emerging complication.
Forny P et al.
Journal of Inherited Metabolic Disease, 2019
Methylmalonic aciduria cblB type: characterization of two novel mutations and mitochondrial dysfunction studies.
Brasil S et al.
Clinical Genetics, 2015
Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias.
Nizon M et al.
Orphanet Journal of Rare Diseases, 2013
Neurocognitive phenotype of isolated methylmalonic acidemia.
O'Shea CJ et al.
Pediatrics, 2012
Different altered pattern expression of genes related to apoptosis in isolated methylmalonic aciduria cblB type and combined with homocystinuria cblC type.
Jorge-Finnigan A et al.
Biochimica Et Biophysica Acta, 2010
Functional and structural analysis of five mutations identified in methylmalonic aciduria cblB type.
Jorge-Finnigan A et al.
Human Mutation, 2010
Ligand-binding by catalytically inactive mutants of the cblB complementation group defective in human ATP:cob(I)alamin adenosyltransferase.
Zhang J et al.
Molecular Genetics and Metabolism, 2009
Causes of and diagnostic approach to methylmalonic acidurias.
Fowler B et al.
Journal of Inherited Metabolic Disease, 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
Structural and functional analyses of the human-type corrinoid adenosyltransferase (PduO) from Lactobacillus reuteri.
Mera PE et al.
Biochemistry, 2007
Methylmalonic acidaemia leads to increased production of reactive oxygen species and induction of apoptosis through the mitochondrial/caspase pathway.
Richard E et al.
The Journal of Pathology, 2007
Impact of cblB mutations on the function of ATP:cob(I)alamin adenosyltransferase in disorders of vitamin B12 metabolism.
Zhang J et al.
Molecular Genetics and Metabolism, 2006
Mutation and biochemical analysis of patients belonging to the cblB complementation class of vitamin B12-dependent methylmalonic aciduria.
Lerner-Ellis JP et al.
Molecular Genetics and Metabolism, 2006
Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria.
Dobson CM et al.
Human Molecular Genetics, 2002
High resolution melting analysis of the MMAB gene in cblB patients and in those with undiagnosed methylmalonic aciduria.
Illson ML et al.
Molecular Genetics and Metabolism, 0