Disease: Methylmalonyl-Coenzyme A mutase deficiency
- A Common Polymorphism in HIBCH Influences Methylmalonic Acid Concentrations in Blood Independently of Cobalamin
- A dodecylamine derivative of cyanocobalamin potently inhibits the activities of cobalamin-dependent methylmalonyl-CoA mutase and methionine synthase of Caenorhabditis elegans
- A False-Positive Case of Methylmalonic Aciduria by Tandem Mass Spectrometry Newborn Screening Dependent on Maternal Malnutrition in Pregnancy
- A genetic epidemiological study in British adults and older adults shows a high heritability of the combined indicator of vitamin B<sub>12</sub> status (cB<sub>12</sub>) and connects B<sub>12</sub> status with utilizati
- A novel small molecule approach for the treatment of propionic and methylmalonic acidemias
- A Primary Study on Down-Regulated miR-9-1 and Its Biological Significances in Methylmalonic Acidemia
- Aberrant methylmalonylation underlies methylmalonic acidemia and is attenuated by an engineered sirtuin
- Acute brainstem encephalitis and myelitis in a girl with isolated methylmalonic aciduria due to MUT gene defect
- Anaesthetic considerations in a patient with methylmalonyl-coenzyme A mutase deficiency
- Analysis of fibroblasts from patients with cblC and cblG genetic defects of cobalamin metabolism reveals global dysregulation of alternative splicing
- Analysis of Novel Mutations and Methylmalonyl-CoA Mutase Levels in Thai Patients with Isolated Methylmalonic Acidemia
- Assay for methylmalonyl coenzyme A mutase activity based on determination of succinyl coenzyme A by ultrahigh-performance liquid chromatography tandem mass spectrometry
- Assessment of methylcitrate and methylcitrate to citrate ratio in dried blood spots as biomarkers for inborn errors of propionate metabolism
- Asymptomatic methylmalonic acidemia in a homozygous MUT mutation (p.P86L)
- Author Correction: Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency
- Biochemical and anaplerotic applications of in vitro models of propionic acidemia and methylmalonic acidemia using patient-derived primary hepatocytes
- Biochemical, molecular and outcome analysis of eight chinese asymptomatic individuals with methyl malonic acidemia detected through newborn screening
- Biochemistry, function, and deficiency of vitamin B12 in Caenorhabditis elegans
- Biomarkers and Algorithms for the Diagnosis of Vitamin B12 Deficiency
- C. elegans MRP-5 Exports Vitamin B12 from Mother to Offspring to Support Embryonic Development
- Caffeic acid and caffeine attenuate toxicity associated with malonic or methylmalonic acid exposure in Drosophila melanogaster
- Cellular and computational models reveal environmental and metabolic interactions in MMUT-type methylmalonic aciduria
- Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemia
- Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B<sub>12</sub>-trafficking proteins ABCD4 and LMBD1
- Clinical presentation, molecular analysis and follow-up of patients with mut methylmalonic acidemia in Shandong province, China
- Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin B<sub>12</sub> metabolism: A meta-analysis
- Cobalamin coenzyme forms are not likely to be superior to cyano- and hydroxyl-cobalamin in prevention or treatment of cobalamin deficiency
- Decrease of disease-related metabolites upon fasting in a hemizygous knock-in mouse model (<em>Mut</em>-ko/ki) of methylmalonic aciduria
- Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut
- Diagnostic dilemma of patients with methylmalonic aciduria: Experience from a tertiary care centre in Pakistan
- Dioxin-elicited decrease in cobalamin redirects propionyl-CoA metabolism to the β-oxidation-like pathway resulting in acrylyl-CoA conjugate buildup
- Early Liver Transplantation for Neonatal-Onset Methylmalonic Acidemia
- Effects of ethanol and sex on propionate metabolism evaluated <em>via</em> a faster <sup>13</sup>C-propionate breath test in rats
- Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiency
- Gene Therapy for Methylmalonic Acidemia: Past, Present, and Future
- Growth retardation, general hypotonia, and loss of acquired neuromotor skills in the infants of mothers with cobalamin deficiency and the possible role of succinyl-CoA and glycine in the pathogenesis
- Identification of 2,2-Dimethylbutanoic Acid (HST5040), a Clinical Development Candidate for the Treatment of Propionic Acidemia and Methylmalonic Acidemia
- Impact on Isoleucine and Valine Supplementation When Decreasing Use of Medical Food in the Nutritional Management of Methylmalonic Acidemia
- Impaired Function of a Rare Mutation in the <em>MMUT</em> Gene Causes Methylmalonic Acidemia in a Chinese Patient
- Impaired mitochondrial function in HepG2 cells treated with hydroxy-cobalamin[c-lactam]: A cell model for idiosyncratic toxicity
- Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency
- Implication of homocysteine in protein quality control processes
- In-depth phenotyping reveals common and novel disease symptoms in a hemizygous knock-in mouse model (Mut-ko/ki) of mut-type methylmalonic aciduria
- Inborn errors of cobalamin absorption and metabolism
- Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014)
- Inherited defects of cobalamin metabolism
- Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency
- Interplay between mitochondria and diet mediates pathogen and stress resistance in Caenorhabditis elegans
- Intracellular processing of vitamin B<sub>12</sub> by MMACHC (CblC)
- Juvenile gout in methylmalonic acidemia
- Label-Free Quantitative Proteomics in a Methylmalonyl-CoA Mutase-Silenced Neuroblastoma Cell Line
- Laboratory assessment of vitamin B12 status
- Liver neoplasms in methylmalonic aciduria: An emerging complication
- Methylmalonic Acid Compromises Respiration and Reduces the Expression of Differentiation Markers of SH-SY5Y Human Neuroblastoma Cells
- Methylmalonic Acid Impairs Cell Respiration and Glutamate Uptake in C6 Rat Glioma Cells: Implications for Methylmalonic Acidemia
- Methylmalonic acidaemia in pregnancy
- Methylmalonic Acidemia Diagnosis by Laboratory Methods
- Methylmalonyl acidemia: from mitochondrial metabolism to defective mitophagy and disease
- Methylmalonyl-coA epimerase deficiency: A new case, with an acute metabolic presentation and an intronic splicing mutation in the <em>MCEE</em> gene
- MicroRNA-9 regulates neural apoptosis in methylmalonic acidemia via targeting BCL2L11
- Mild clinical features of isolated methylmalonic acidemia associated with a novel variant in the MMAA gene in two Chinese siblings
- Mitochondria, mitophagy, and metabolic disease: towards assembling the puzzle
- Molecular and biochemical alterations in tubular epithelial cells of patients with isolated methylmalonic aciduria
- Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT
- Molecular, biochemical, and structural analysis of a novel mutation in patients with methylmalonyl-CoA mutase deficiency
- Mutation Analyses in Selected Exons of the MUT Gene in Indian Patients with Methylmalonic Acidemia
- Mutation analysis and prenatal diagnosis for three families affected by isolated methylmalonic aciduria
- Mutation analysis of genes related to methylmalonic acidemia: identification of eight novel mutations
- Neutralizing Antibodies Against Adeno-Associated Viral Capsids in Patients with mut Methylmalonic Acidemia
- Nitrogen deprivation in Fusarium oxysporum promotes mycotoxin production via intermediates in the Krebs cycle and unreported methylmalonyl-CoA mutase activity
- Novel AAV-mediated genome editing therapy improves health and survival in a mouse model of methylmalonic acidemia
- Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect
- Optic neuropathy in classical methylmalonic acidemia
- Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
- Proteomics Reveals that Methylmalonyl-CoA Mutase Modulates Cell Architecture and Increases Susceptibility to Stress
- Renal involvement in a patient with cobalamin A type (cblA) methylmalonic aciduria: a 42-year follow-up
- Review - State of knowledge on the importance of folates and cobalamin for dairy cow metabolism
- Review of neuropsychological outcomes in isolated methylmalonic acidemia: recommendations for assessing impact of treatments
- Secondary acrodermatitis enteropathica-like skin findings in a case of methylmalonic acidemia
- Selective Screening for Organic Acidurias and Amino Acidopathies in Pakistani Children
- Systematic literature review and meta-analysis on the epidemiology of methylmalonic acidemia (MMA) with a focus on MMA caused by methylmalonyl-CoA mutase (mut) deficiency
- Systems analysis of avascular necrosis of femoral head using integrative data analysis and literature mining delineates pathways associated with disease
- Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia
- TAT-MTS-MCM fusion proteins reduce MMA levels and improve mitochondrial activity and liver function in MCM-deficient cells
- The effect of vitamin B<sub>12</sub> on DNA adduction by styrene oxide, a genotoxic xenobiotic
- The impact of metabolic stressors on mitochondrial homeostasis in a renal epithelial cell model of methylmalonic aciduria
- The phenotypes and genotypes in 314 patients with isolated methylmalonic acidemia
- The proteome of methylmalonic acidemia (MMA): the elucidation of altered pathways in patient livers
- The vitamin B12 processing enzyme, mmachc, is essential for zebrafish survival, growth and retinal morphology
- Treatment of metabolic disorders using genomic technologies: Lessons from methylmalonic acidemia
- Triheptanoin protects against status epilepticus-induced hippocampal mitochondrial dysfunctions, oxidative stress and neuronal degeneration
- Versatile enzymology and heterogeneous phenotypes in cobalamin complementation type C disease
- Vitamin B(12) metabolism during pregnancy and in embryonic mouse models
- Vitamin B<sub>12</sub> , folate, and the methionine remethylation cycle-biochemistry, pathways, and regulation
- Vitamin B<sub>12</sub> Administration by Subcutaneous Catheter Device in a Cobalamin A (cblA) Patient
- Vitamin B<sub>12</sub> status in health and disease: a critical review. Diagnosis of deficiency and insufficiency - clinical and laboratory pitfalls
- Vitamin B12 (cobalamin)
- Vitamin B12 and related genetic disorders
- Vitamin B12-Multifaceted In Vivo Functions and In Vitro Applications
- Would, early, versus late hydroxocobalamin dose intensification treatment, prevent cognitive decline, macular degeneration and ocular disease, in 5 patients with early-onset cblC deficiency?