• A case of late-onset propionic acidemia with isolated dilated cardiomyopathy
• A common benign intronic deletion masking a pathogenic deep intronic PCCB variant - genome sequencing and RNA studies to the rescue
• A Deadly Case of Dehydration: Organic Acidemias in the Emergency Department
• Acyl-CoA dehydrogenase substrate promiscuity: Challenges and opportunities for development of substrate reduction therapy in disorders of valine and isoleucine metabolism
• Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS)
• Aminotransferase trends in propionic acidemia
• An Early Cost-Utility Model of mRNA-Based Therapies for the Treatment of Methylmalonic and Propionic Acidemia in the United Kingdom
• Anaesthetic Management of a Child with Propionic Acidemia
• 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
• Challenges and strategies for clinical trials in propionic and methylmalonic acidemias
• Characterizing the mechanism of action for mRNA therapeutics for the treatment of propionic acidemia, methylmalonic acidemia, and phenylketonuria
• Coexistence of Two Rare Conditions Complicating the Other's Management: Propionic Acidemia and Apert Syndrome
• Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples
• Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and Homocystinuria
• CryoEM reveals oligomeric isomers of a multienzyme complex and assembly mechanics
• Design and Outcomes of a Novel Multidisciplinary Ophthalmic Genetics Clinic
• Development of Brain Penetrant Pyridazine Pantothenate Kinase Activators
• Domino liver transplantation for maple syrup urine disease in children: A single-center case series
• Establishment of a non-integrated iPSC line (SDQLCHi043-A) from a male infant with propionic acidemia carrying compound heterozygote mutations in PCCB gene
• Evaluating renin and aldosterone levels in children with organic acidemia-therapeutic experience with fludrocortisone
• Fasting alleviates metabolic alterations in mice with propionyl-CoA carboxylase deficiency due to Pcca mutation
• Functional analysis of novel variants identified in cis in the PCCB gene in a patient with propionic acidemia
• Gene therapy for organic acidemias: Lessons learned from methylmalonic and propionic acidemia
• 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
• Intellectual disability and autism in propionic acidemia: a biomarker-behavioral investigation implicating dysregulated mitochondrial biology
• Interim analyses of a first-in-human phase 1/2 mRNA trial for propionic acidaemia
• mRNA drug offers hope for treating a devastating childhood disease
• New insights into the pathophysiology of methylmalonic acidemia
• Newborn Screening Conditions: Early Intervention and Probability of Developmental Delay
• NMR Spectroscopy in Diagnosis and Monitoring of Methylmalonic and Propionic Acidemias
• Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias
• Pathophysiological mechanisms of complications associated with propionic acidemia
• Prevalence of propionic acidemia in China
• Real-World Experience of Carglumic Acid for Methylmalonic and Propionic Acidurias: An Interim Analysis of the Multicentre Observational PROTECT Study
• Regulating <em>PCCA</em> gene expression by modulation of pseudoexon splicing patterns to rescue enzyme activity in propionic acidemia
• Regulating PCCA gene expression by modulation of pseudoexon splicing patterns to rescue enzyme activity in propionic acidemia
• Research progress on the prognosis of patients with various types of Methylmalonic acidemia
• Retrospective study of propionic acidemia using natural language processing in Mayo Clinic electronic health record data
• Safety, efficacy, and timing of transplantation(s) in propionic and methylmalonic aciduria
• Survival of propionic acidemia patients with liver transplant
• Systemic gene therapy using an AAV44.9 vector rescues a neonatal lethal mouse model of propionic acidemia
• The attenuated hepatic clearance of propionate increases cardiac oxidative stress in propionic acidemia
• The utility of methylmalonic acid, methylcitrate acid, and homocysteine in dried blood spots for therapeutic monitoring of three inherited metabolic diseases
• Understanding the Pathogenesis of Cardiac Complications in Patients with Propionic Acidemia and Exploring Therapeutic Alternatives for Those Who Are Not Eligible or Are Waiting for Liver Transplantation
• Validity and reliability of the MetabQoL 1.0 and assessment of neuropsychiatric burden in organic acidemias: Reflections from Turkey