• A novel MMUT splicing variant causing mild methylmalonic acidemia phenotype
• Abnormal chondrocyte development in a zebrafish model of cblC syndrome restored by an MMACHC cobalamin binding mutant
• Acute fatal ventricular arrhythmia induced by severe hyperkalemia in a toddler with decompensated methylmalonic acidemia
• Acyl-CoA dehydrogenase substrate promiscuity: Challenges and opportunities for development of substrate reduction therapy in disorders of valine and isoleucine metabolism
• Adult-onset combined methylmalonic acidemia and hyperhomocysteinemia, cblC type with aortic dissection and acute kidney injury: a case report
• An Early Cost-Utility Model of mRNA-Based Therapies for the Treatment of Methylmalonic and Propionic Acidemia in the United Kingdom
• Analysis of clinical phenotypes and MMACHC gene variants in 65 children with Methylmalonic acidemia and homocysteinemia
• Anesthetic management of a pediatric patient with methylmalonic acidemia combined with hyperhomocysteinemia: A case report
• Application of machine learning tools and integrated OMICS for screening and diagnosis of inborn errors of metabolism
• Biochemical Pattern of Methylmalonyl-CoA Epimerase Deficiency Identified in Newborn Screening: A Case Report
• Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia
• Case report: An asymptomatic mother with an inborn error of cobalamin metabolism (cblC) detected through high homocysteine levels during prenatal diagnosis
• Case report: Desquamating dermatitis, bilateral cerebellar lesions in a late-onset methylmalonic acidemia patient
• Challenges and strategies for clinical trials in propionic and methylmalonic acidemias
• Characteristics, differential diagnosis, individualized treatment, and prevention of hyperhomocysteinemia in newborns
• Characterizing the mechanism of action for mRNA therapeutics for the treatment of propionic acidemia, methylmalonic acidemia, and phenylketonuria
• China nationwide landscape of 16 types inherited metabolic disorders: a retrospective analysis on 372,255 clinical cases
• Clinical and electroencephalogram characteristics of methylmalonic acidemia with MMACHC and MUT gene mutations
• Clinical and Molecular Genetic Analysis with Methylmalonic Acidemia Combined with Homocystinuria
• Clinical and Molecular Spectrum of Patients with Methylmalonic Acidemia
• Clinical features and follow-up study on 55 patients with adolescence-onset methylmalonic acidemia
• Clinical outcomes of patients with mut-type methylmalonic acidemia identified through expanded newborn screening in China
• Clinical, Biochemical and Molecular Features of a Cohort of 8 Patients with Inherited Disorders of Vitamin B12 Metabolism in a Metabolic Reference Center
• Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples
• Combined Malonic and Methylmalonic Aciduria Diagnosed by Recurrent and Severe Infections Mimicking a Primary Immunodeficiency Disease: A Case Report
• Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and Homocystinuria
• Concurrent combined methylmalonic acidemia and homocystinuria with down syndrome in a Chinese preschool Child: An in-depth case report and literature review
• Disease spectrum and pathogenic genes of inherited metabolic disorder in Gansu Province of China
• Disease spectrum, prevalence, genetic characteristics of inborn errors of metabolism in 21,840 hospitalized infants in Chongqing, China, 2017-2022
• Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods
• Evaluating renin and aldosterone levels in children with organic acidemia-therapeutic experience with fludrocortisone
• Evaluation of the clinical, biochemical, genotype and prognosis of <em>mut</em>-type methylmalonic acidemia in 365 Chinese cases
• Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey
• Exploring factors impacting haplotype-based noninvasive prenatal diagnosis for single-gene recessive disorders
• Gene therapy for organic acidemias: Lessons learned from methylmalonic and propionic acidemia
• Genetic analysis of isolated methylmalonic acidemia in Henan, China: c.1663G&gt;A variant of MMUT prevalent in the Henan population
• Genetic analysis of isolated methylmalonic acidemia in Henan, China: c.1663G>A variant of MMUT prevalent in the Henan population
• Haplotype-based noninvasive prenatal diagnosis of methylmalonic acidemia and the discovery of a recurrent pathogenic haplotype associated with c.609G&gt;A
• Healthy Plasma Exosomes Exert Potential Neuroprotective Effects against Methylmalonic Acid-Induced Hippocampal Neuron Injury
• Hypogammaglobulinemia Class G Is Present in Compensated and Decompensated Patients with Propionate Defects, Independent of Their Nutritional Status
• Identification and characterization of the largest deletion in the PCCA gene causing severe acute early-onset form of propionic acidemia
• Identification of Novel Mutations in the MMAA and MUT Genes among Methylmalonic Aciduria Families
• Identifying and predicting the pathogenic effects of a novel variant inducing severe early onset MMA: a bioinformatics approach
• Improved biochemical and neurodevelopmental profiles with high-dose hydroxocobalamin therapy in cobalamin C defect
• Improved therapeutic efficacy in two mouse models of methylmalonic acidemia (MMA) using a second-generation mRNA therapy
• Improving the second-tier classification of methylmalonic acidemia patients using a machine learning ensemble method
• Insights into energy balance dysregulation from a mouse model of methylmalonic aciduria
• Late-onset cblC defect: clinical, biochemical and molecular analysis
• Late-onset cobalamin C deficiency type in adult with cognitive and behavioral disturbances and significant cortical atrophy and cerebellar damage in the MRI: a case report
• Late-onset methylmalonic acidemia and homocysteinemia (cblC disease): systematic review
• Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation
• Living-donor liver transplantation for methylmalonic acidemia patient with hepatocellular carcinoma: A case report and literature review
• Long-term clinical outcomes and health-related quality of life in patients with isolated methylmalonic acidemia after liver transplantation: experience from the largest cohort study in China
• Long-Term Outcomes of Living Donor Liver Transplantation for Methylmalonic Acidemia
• Methylmalonic Acidemia - Matter Most Awaited!
• Methylmalonic Acidemia Masquerading as Rett Syndrome: An Atypical "Neurodegenerative" Variant?
• Methylmalonic acidemia triggers lysosomal-autophagy dysfunctions
• New insights into the pathophysiology of methylmalonic acidemia
• NMR Spectroscopy in Diagnosis and Monitoring of Methylmalonic and Propionic Acidemias
• Non-Hodgkin lymphoma in a kidney transplanted patient with methylmalonic acidemia: Metabolic susceptibility and the role of immunosuppression
• Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias
• Persistent pulmonary hypertension of the newborn due to methylmalonic acidemia: a case report and review of the literature
• Preimplantation genetic testing for monogenic disorders (PGT-M) offers an alternative strategy to prevent children from being born with hereditary neurological diseases or metabolic diseases dominated by nervous system phenotypes: a retrospective study
• Pulmonary fungal infection in a neonate with methylmalonic acidemia: A case report
• Research progress on the prognosis of patients with various types of Methylmalonic acidemia
• Reversible Cortical and Basal Ganglia Lesions in Late-Onset Methylmalonic Aciduria
• Screening of 1.17 million newborns for inborn errors of metabolism using tandem mass spectrometry in Shanghai, China: A 19-year report
• Serum vitamin B12 is a promising auxiliary index for the diagnosis of methylmalonic acidemia in children: A single center study in China
• Successful adult domino living donor liver transplantation in methylmalonic acidemia: case report
• Systemic gene therapy using an AAV44.9 vector rescues a neonatal lethal mouse model of propionic acidemia
• The impact of metabolic stressors on mitochondrial homeostasis in a renal epithelial cell model of methylmalonic aciduria
• The utility of methylmalonic acid, methylcitrate acid, and homocysteine in dried blood spots for therapeutic monitoring of three inherited metabolic diseases
• Uncommonly Missed Diagnosis of Methylmalonic Acidemia (MMA) in Adults and Usefulness of Testing for MMA in Cases of Seizures/Neuropathy/Weakness/Ataxia
• Using metabolic abnormalities of carriers in the neonatal period to evaluate the pathogenicity of variants of uncertain significance in methylmalonic acidemia
• Validity and reliability of the MetabQoL 1.0 and assessment of neuropsychiatric burden in organic acidemias: Reflections from Turkey
• Very late onset methylmalonic acidemia (cblB type) as a cause of status epilepticus, leukoencephalopathy and myelopathy