• <em>MCEE</em> Mutations in an Adult Patient with Parkinson's Disease, Dementia, Stroke and Elevated Levels of Methylmalonic Acid
• "Classical organic acidurias": diagnosis and pathogenesis
• A False-Positive Case of Methylmalonic Aciduria by Tandem Mass Spectrometry Newborn Screening Dependent on Maternal Malnutrition in Pregnancy
• A high frequency and geographical distribution of MMACHC R132* mutation in children with cobalamin C defect
• A Korean child diagnosed with malonic aciduria harboring a novel start codon mutation following presentation with dilated cardiomyopathy
• A New Approach for Fast Metabolic Diagnostics in CMAMMA
• A new case of malonic aciduria with a presymptomatic diagnosis and an early treatment
• A new case of malonyl-CoA decarboxylase deficiency with mild clinical features
• A novel homozygous mutation in SUCLA2 gene identified by exome sequencing
• Abnormal findings during newborn period of 160 patients with early-onset methylmalonic aciduria
• Absence of MMACHC in peripheral retinal cells does not lead to an ocular phenotype in mice
• Acute encephalopathy induced by vaccination in an infant with methylmalonic aciduria cblA
• Adult-onset eculizumab-resistant hemolytic uremic syndrome associated with cobalamin C deficiency
• Advances in the clinical and laboratory studies on methylmalonic aciduria combined with homocysteinemia type cblC
• Audit of Organic Acidurias from a Single Centre: Clinical and Metabolic Profile at Presentation with Long Term Outcome
• Biochemical, molecular and outcome analysis of eight chinese asymptomatic individuals with methyl malonic acidemia detected through newborn screening
• Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia
• Brain damage in methylmalonic aciduria: 2-methylcitrate induces cerebral ammonium accumulation and apoptosis in 3D organotypic brain cell cultures
• Brain metabolism and neurological symptoms in combined malonic and methylmalonic aciduria
• Cannabinoid receptor antagonist-induced striated muscle toxicity and ethylmalonic-adipic aciduria in beagle dogs
• Capillary electrophoresis with capacitively coupled contactless conductivity detection for the determination of urinary ethylmalonic acid for the diagnosis of ethylmalonic aciduria
• Cardiovascular involvement in later-onset malonyl-CoA decarboxylase deficiency: Case studies and literature review
• Cellular and computational models reveal environmental and metabolic interactions in MMUT-type methylmalonic aciduria
• Characterization of functional domains of the cblD (MMADHC) gene product
• Clinical and laboratory studies on four Chinese patients with succinate-CoA ligase deficiency noticed by mild methylmalonic aciduria
• Clinical Application of LC-MS/MS in the Follow-Up for Treatment of Children with Methylmalonic Aciduria
• Clinical, biochemical and genetic characteristics and long-term follow-up of five patients with malonyl-CoA decarboxylase deficiency
• Clinical, biochemical and molecular characteristics of malonyl-CoA decarboxylase deficiency and long-term follow-up of nine patients
• Cobalamin J disease detected on newborn screening: Novel variant and normal neurodevelopmental course
• Combined Malonic and Methylmalonic Aciduria Due to <em>ACSF3</em> Variants Results in Benign Clinical Course in Three Chinese Patients
• Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort
• Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and Homocystinuria
• Comparing amniotic fluid mass spectrometry assays and amniocyte gene analyses for the prenatal diagnosis of methylmalonic aciduria
• Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria
• Correction of methylmalonic aciduria in vivo using a codon-optimized lentiviral vector
• Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut
• Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China
• Development of transgenic mice containing an introduced stop codon on the human methylmalonyl-CoA mutase locus
• Diagnostic Challenges Using a 2-Tier Strategy for Methylmalonic Acidurias: Data from 1.2 Million Dried Blood Spots
• Dietary Treatment from Birth to Pregnancy in a Woman with Methylmalonic Aciduria
• DNA Methylation Level of Transcription Factor Binding Site in the Promoter Region of Acyl-CoA Synthetase Family Member 3 (<em>ACSF3</em>) in Saudi Autistic Children
• Ethylmalonic Aciduria in an Infant with Neurological and Skin Presentation
• Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report
• Genome and RNA sequencing in patients with methylmalonic aciduria of unknown cause
• Hepatocyte-like cells differentiated from methylmalonic aciduria cblB type induced pluripotent stem cells: A platform for the evaluation of pharmacochaperoning
• Heterogenous Clinical Landscape in a Consanguineous Malonic Aciduria Family
• High resolution melting analysis of the MMAA gene in patients with cblA and in those with undiagnosed methylmalonic aciduria
• Identification and Quantitation of Malonic Acid Biomarkers of In-Born Error Metabolism by Targeted Metabolomics
• Identification of ABC transporters acting in vitamin B₁₂ metabolism in Caenorhabditis elegans
• Impact of age at onset and newborn screening on outcome in organic acidurias
• 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 Metabolism Associated With Autism Among Children: A Multicenter Study from Iran
• Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias
• Maleic Acid--but Not Structurally Related Methylmalonic Acid--Interrupts Energy Metabolism by Impaired Calcium Homeostasis
• Malonic aciduria: long-term follow-up of new patients detected by newborn screening
• Malonyl coenzyme A decarboxylase deficiency with a novel mutation
• Malonyl-CoA decarboxylase deficiency: long-term follow-up of a patient new clinical features and novel mutations
• Metabolic Encephalopathy and Lipid Storage Myopathy Associated with a Presumptive Mitochondrial Fatty Acid Oxidation Defect in a Dog
• Methylmalonic acid administration induces DNA damage in rat brain and kidney
• Methylmalonyl-CoA Epimerase Deficiency Mimicking Propionic Aciduria
• MOLECULAR-GENETIC ASPECTS OF METHYLMALONIC ACIDURIA DEVELOPMENT (REVIEW)
• Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria
• Neurologic outcome following liver transplantation for methylmalonic aciduria
• New in vitro model derived from brain-specific Mut-/- mice confirms cerebral ammonium accumulation in methylmalonic aciduria
• Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations
• Novel HILIC-ESI-MS method for urinary profiling of MSUD and methylmalonic aciduria biomarkers
• Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect
• Optical coherence tomography morphology and evolution in cblC disease-related maculopathy in a case series of very young patients
• Organic acidurias in adults: late complications and management
• Organic acidurias: Major gaps, new challenges, and a yet unfulfilled promise
• Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum
• Plasma methylcitric acid and its correlations with other disease biomarkers: The impact in the follow up of patients with propionic and methylmalonic acidemia
• Pregnancy in a methylmalonic acidemia patient with kidney transplantation: a case report
• Primary Pulmonary Hypertension Associated with Asymptomatic Methylmalonic Aciduria in a Child
• Proteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report
• Proteomic and Biochemical Studies of Lysine Malonylation Suggest Its Malonic Aciduria-associated Regulatory Role in Mitochondrial Function and Fatty Acid Oxidation
• Pulmonary hypertension in late-onset Methylmalonic Aciduria and Homocystinemia: a case report
• Quantification of 2-methylcitric acid in dried blood spots improves newborn screening for propionic and methylmalonic acidemias
• Refining low protein modular feeds for children on low protein tube feeds with organic acidaemias
• Renal transplantation in 4 patients with methylmalonic aciduria: a cell therapy for metabolic disease
• Robotic versus laparoscopic sphincter-saving total mesorectal excision for mid or low rectal cancer in male patients after neoadjuvant chemoradiation therapy: comparison of long-term outcomes
• Safety, efficacy, and timing of transplantation(s) in propionic and methylmalonic aciduria
• Sani-cloth wipe mimics rare enzyme deficiency malonic aciduria on newborn screen
• Selective Screening for Organic Acidurias and Amino Acidopathies in Pakistani Children
• Serum cobalamin, urine methylmalonic acid, and plasma total homocysteine concentrations in Border Collies and dogs of other breeds
• Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients
• TAT-MTS-MCM fusion proteins reduce MMA levels and improve mitochondrial activity and liver function in MCM-deficient cells
• The emerging role of the mitochondrial fatty-acid synthase (mtFASII) in the regulation of energy metabolism
• The roles of homocysteinemia and methylmalonic acidemia in kidney injury in atypical hemolytic uremic syndrome caused by cobalamin C deficiency
• Therapeutic plasma exchange in non-hematooncological disorders in pediatrics: A single center experience
• Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy
• Thrombotic microangiopathy and breastfeeding: where is the link? Questions
• Transcobalamin receptor defect: Identification of two new cases through positive newborn screening for propionic/methylmalonic aciduria and long-term outcome
• Trichloroethylene and trichloroethanol-induced formic aciduria and renal injury in male F-344 rats following 12 weeks exposure
• Typical or Atypical Hemolytic Uremic Syndrome and the Use of Eculizumab: 4 Illustrative Cases
• Valproate therapy exacerbating intermediate phenotype of methylmalonic aciduria
• Variants in the ethylmalonyl-CoA decarboxylase (ECHDC1) gene: a novel player in ethylmalonic aciduria?
• Very long-term outcomes in 23 patients with cblA type methylmalonic acidemia
• X-Linked Cobalamin Disorder (HCFC1) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid
• ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences