Disease: Defect in synthesis of adenosylcobalamin
- A high frequency and geographical distribution of MMACHC R132* mutation in children with cobalamin C defect
- A patient with an inborn error of vitamin B12 metabolism (cblF) detected by newborn screening
- Acquired and inherited disorders of cobalamin and folate in children
- Alteration of mitochondrial DNA and RNA level in human fibroblasts with impaired vitamin B12 coenzyme synthesis
- Analysis of Novel Mutations and Methylmalonyl-CoA Mutase Levels in Thai Patients with Isolated Methylmalonic Acidemia
- Assembly and protection of the radical enzyme, methylmalonyl-CoA mutase, by its chaperone
- Atypical methylmalonic aciduria: frequency of mutations in the methylmalonyl CoA epimerase gene (MCEE)
- Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia
- Causes of and diagnostic approach to methylmalonic acidurias
- Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemia
- Clinical and molecular findings in Thai patients with isolated methylmalonic acidemia
- Clinical characteristics and gene mutation analysis of methylmalonic aciduria
- Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC)
- Clinical, Biochemical, and Molecular Presentation in a Patient with the cblD-Homocystinuria Inborn Error of Cobalamin Metabolism
- Cobalamin (Cbl) C/D deficiency: clinical, neurophysiological and neuroradiologic findings in 14 cases
- Cobalamin C defect presenting as severe neonatal hyperammonemia
- Cobalamin C defect: natural history, pathophysiology, and treatment
- Cobalamin deficiency and the pathogenesis of nervous system disease
- Cobalamin deficiency associated with methylmalonic acidemia in a cat
- Cobalamin disorder Cbl-C presenting with late-onset thrombotic microangiopathy
- Defective adenosylcobalamin synthesis in a case of transcobalamin II deficiency
- Defective lysosomal release of vitamin B12 (cb1F): a hereditary cobalamin metabolic disorder associated with sudden death
- Defects in adenosylcobalamin biosynthesis
- Diagnosis and treatment of methylmalonic aciduria: a case report
- Expression and kinetic characterization of methylmalonyl-CoA mutase from patients with the mut- phenotype: evidence for naturally occurring interallelic complementation
- Expression of recombinant human methylmalonyl-CoA mutase: in primary mut fibroblasts and Saccharomyces cerevisiae
- Functional and structural analysis of five mutations identified in methylmalonic aciduria cblB type
- Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiency
- Functional characterization and mutation analysis of human ATP:Cob(I)alamin adenosyltransferase
- Gene identification for the cblD defect of vitamin B12 metabolism
- Genetic analysis of the protein shell of the microcompartments involved in coenzyme B12-dependent 1,2-propanediol degradation by Salmonella
- Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants
- Genetic and genomic systems to study methylmalonic acidemia
- Growth requirement for methionine in human melanoma-derived cell lines with different levels of MMACHC expression and methylation
- High resolution melting analysis of the MMAB gene in cblB patients and in those with undiagnosed methylmalonic aciduria
- Homocystinuria and megaloblastic anemia responsive to vitamin B12 therapy. An inborn error of metabolism due to a defect in cobalamin metabolism
- Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria
- Human ATP:Cob(I)alamin adenosyltransferase and its interaction with methionine synthase reductase
- Hydrocephalus in cblC type methylmalonic acidemia
- Identification of a novel deletion in the MMAA gene in two Iranian siblings with vitamin B12-responsive methylmalonic acidemia
- Inborn Error of Cobalamin Metabolism Associated with the Intracellular Accumulation of Transcobalamin-Bound Cobalamin and Mutations in ZNF143, Which Codes for a Transcriptional Activator
- Inborn errors of cobalamin absorption and metabolism
- Inherited defects of cobalamin metabolism
- Inherited errors of cobalamin metabolism and their management
- Inherited methylmalonyl CoA mutase apoenzyme deficiency in human fibroblasts: evidence for allelic heterogeneity, genetic compounds, and codominant expression
- Isolation and genetic characterizations of Bacillus megaterium cobalamin biosynthesis-deficient mutants
- Juvenile gout in methylmalonic acidemia
- Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: diagnosis and novel mutation revealed by exome sequencing
- Leukoencephalopathies associated with disorders of cobalamin and folate metabolism
- Ligand-binding by catalytically inactive mutants of the cblB complementation group defective in human ATP:cob(I)alamin adenosyltransferase
- Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB)
- MeaB is a component of the methylmalonyl-CoA mutase complex required for protection of the enzyme from inactivation
- Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuria
- Methionine auxotrophy in inborn errors of cobalamin metabolism
- Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group
- Methylmalonic Acidemia Diagnosis by Laboratory Methods
- Methylmalonic aciduria due to a new defect in adenosylcobalamin accumulation by cells
- Mild clinical features of isolated methylmalonic acidemia associated with a novel variant in the MMAA gene in two Chinese siblings
- Molecular analysis of methylmalonyl-CoA mutase deficiency: identification of three missense mutations in mut0 patients
- Molecular basis for dysfunction of some mutant forms of methylmalonyl-CoA mutase: deductions from the structure of methionine synthase
- Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism
- Mouse models to study the pathophysiology of combined methylmalonic acidemia and homocystinuria, cblC type
- Multiple congenital anomalies in two boys with mutation in HCFC1 and cobalamin disorder
- Mutation analysis of genes related to methylmalonic acidemia: identification of eight novel mutations
- Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism
- Neonatal hemolytic-uremic syndrome, methylmalonic aciduria and homocystinuria caused by intracellular vitamin B 12 deficiency. Value of etiological diagnosis
- Neuropsychiatric disturbances in presumed late-onset cobalamin C disease
- Novel Deletion Mutation Identified in a Patient with Late-Onset Combined Methylmalonic Acidemia and Homocystinuria, cblC Type
- Pilot Study on Neonatal Screening for Methylmalonic Acidemia Caused by Defects in the Adenosylcobalamin Synthesis Pathway and Homocystinuria Caused by Defects in Homocysteine Remethylation
- Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters
- Quantitative analysis of mitochondrial protein expression in methylmalonic acidemia by two-dimensional difference gel electrophoresis
- Remethylation disorders: about two cases
- Renal involvement in a patient with cobalamin A type (cblA) methylmalonic aciduria: a 42-year follow-up
- Seven novel mutations in mut methylmalonic aciduria
- Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia
- Structure of metallochaperone in complex with the cobalamin-binding domain of its target mutase provides insight into cofactor delivery
- Structures of the human GTPase MMAA and vitamin B12-dependent methylmalonyl-CoA mutase and insight into their complex formation
- Successful intrauterine treatment of a patient with cobalamin C defect
- The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis
- The end of the cob operon: evidence that the last gene (cobT) catalyzes synthesis of the lower ligand of vitamin B12, dimethylbenzimidazole
- The forms and transport of plasma cobalamins in normal man and in myeloproliferative states
- The Mmachc gene is required for pre-implantation embryogenesis in the mouse
- The natural history of the inherited methylmalonic acidemias
- The nature of the defect in cobalamin G mutation
- The PduX enzyme of Salmonella enterica is an L-threonine kinase used for coenzyme B12 synthesis
- Treatable cause of hereditary spastic paraplegia: eight cases of combined homocysteinaemia with methylmalonic aciduria