Alterations in gut microbiota composition in children with methylmalonic acidemia, propionic acidemia, and maple syrup urine disease.

Characterizing the frequency of clinical events and assessing biomarkers in propionic acidemia: a natural history study.

Identification of novel compound heterozygote variants in the PCCB gene in a fetus with undetectable fetal phenotype.

Global Longitudinal Strain Alteration of the Left Ventricle in Children with Organic Aciduria: Cardiac Disease in Organic Aciduria.

Coexistence of Propionic Acidemia and Infantile Hypertrophic Pyloric Stenosis.

Mitochondrial Dysfunction in Propionic Acidemia: A Case-Report and Review of the Literature.

Natural Protein-Restricted Diets and Their Impact on Linear Growth in Patients with Propionic and Methylmalonic Acidemia: A Systematic Review.

Generation of an isogenic human induced pluripotent stem cell line with a mutant propionyl-CoA carboxylase α subunit.

Too Early to Tell? Balancing Diagnostic Accuracy of Newborn Screening for Propionic Acidemia Versus a Timely Referral.

Heart and heart-liver transplantation in Amish patients with propionic acidemia.

Liver transplantation for propionic acidemia: Survival and metabolic outcomes.

Reversing Acute Cardiomyopathy With Coenzyme Q10 Supplementation in Cobalamin B Disease: A Case Report and Literature Review.

Incidence of Organic Acid Disorders in 13 Million Chinese Newborns: A Systematic Review and Meta-Analysis.

Expanded Newborn Screening for Inborn Errors of Metabolism at a Single Center in Louisiana (2005-2024): Outcomes.

H4K16 acylations destabilize chromatin architecture and facilitate transcriptional response during metabolic perturbations.

Evaluation of dietary management and monitoring practices in pharmaceutical clinical trials for inborn errors of metabolism.

Nutritional Management in Severe Methylmalonic and Propionic Acidemias: How Much Medical Food Is Too Much?

Nutritional management of metabolic disorders in neonates and infants in Saudi Arabia: consensus recommendations.

Propionic acidemia and methylmalonic aciduria: A portrait of the first 3 years-Admissions and complications.

Infantile Spasms in Inborn Errors of Metabolism: Diagnostic and Therapeutic Considerations.

Nanoscale conformational dynamics of human propionyl-CoA carboxylase.

Propionic Acidemia: Gray Matter Disease Meets Subcortical Leukodystrophy.

Transforming Growth Factor-β-Mediated Fibrotic Remodeling Drives Chronic Kidney Disease in Methylmalonic Aciduria and Propionic Aciduria-Identification of a New Therapeutic Target.

Improvement of propionic acidemia-associated dilated cardiomyopathy through nutritional adjustment and heart failure medication: A case report.

Toxic Storm Defused: Successful Use of Plasmapheresis and Continuous Renal Replacement Therapy in Propionic Acidemia.

Ventricular Fibrillation and Cardiomyopathy in Propionic Acidemia: A Rare Metabolic Red Flag in Young Adults.

The Role of Cellular Stress, Antioxidant System Response, Mitochondrial Function, and Metabolic Alterations in the Pathophysiology of Propionic Acidemia: A Systematic Review.

Targeting pantothenate kinases in human diseases: Biochemistry and pharmacotherapy.

[Sequential therapy with carglumic acid in three cases of organic acidemia crisis].

Clinical burden of propionic acidemia in the United States: a claims-based study by age stratum.

Evaluating the Humoral Immune Response to Sinovac-Coronavac in a Pediatric Patient with Propionic Acidemia: A Case Study.

Metabolic rerouting of valine and isoleucine oxidation increases survival in zebrafish models of disorders of propionyl-CoA metabolism.

Economic burden of propionic acidemia in the United States: a claims-based study.

C4OH-carnitine: an important marker of ketosis in patients with and without inborn errors of metabolism.

Oxidative stress in branched-chain organic acidemias using thiol-disulfide homeostasis.

Author's Reply to Perera et al.: A Commentary on "An Early Cost-Utility Model of mRNA-Based Therapies for the Treatment of Methylmalonic and Propionic Acidemia in the United Kingdom".

Newborn screening for neuro-metabolic disorders: Strategies, clinical benefits, and prerequisites for program expansion.

Metabolic decompensation events among patients with propionic acidemia across the US: A large electronic medical record data study.

Propionic Acidemia-Induced Proarrhythmic Electrophysiological Alterations in Human iPSC-Derived Cardiomyocytes.

Elevated propionate and its association with neurological dysfunctions in propionic acidemia.

Metabolic flux analysis in hiPSC-CMs reveals insights into cardiac dysfunction in propionic acidemia.

Eye closure sensitivity and related EEG findings: Persistence rates and classification of epilepsy syndromes by the International League Against Epilepsy.

An atypical presentation in a child with propionic acidemia? Better think twice!

Short and Long-Term Outcomes of Liver Transplantation in Pediatric Patients With Inborn Errors of Metabolism: A Single-Center Study.

Six Chinese patients with propionic acidemia: from asymptomatic to death in the neonatal period.

Novel CRISPR-Cas9 iPSC knockouts for PCCA and PCCB genes: advancing propionic acidemia research.

Adeno-Associated Virus Gene Therapy Development: Early Planning and Regulatory Considerations to Advance the Platform Vector Gene Therapy Program.

Metabolic flux analysis in hiPSC-CMs reveals insights into cardiac dysfunction in propionic acidemia Eva Richard.

Clinical and laboratory characteristics of propionic acidemia in a Turkish cohort.

Breath biopsy in inborn errors of metabolism: A proof-of-principle study in propionic acidemia.

Acrodermatitis dysmetabolica: lessons from two pediatric cases.

Role of carglumic acid in the long-term management of propionic and methylmalonic acidurias.

Renal phenotyping in a hypomorphic murine model of propionic aciduria reveals common pathomechanisms in organic acidurias.

Propionic Acidemia diagnosed in Amish adults and pregnancy outcomes: A case series.

A Case of Cardiogenic Shock due to Propionic Acidemia-Associated Cardiomyopathy Successfully Treated with a Combination of Mechanical Circulatory Support and Medical Therapy.

Neurodegenerative biomarkers and inflammation in patients with propionic and methylmalonic acidemias: effect of L-carnitine treatment.

The Impact of Early Indication of Living Donor Liver Transplantation on the Outcomes of Patients With Propionic Acidemia: A Single-Center Experience.

Propionic Acidemia in a Neonate: The Clues to Early Identification.

Combined Heart and Liver Transplantation in Delayed-Onset Propionic Acidemia.

Evidence That Long-Term Treatment Prevents Tissue Oxidative Damage in Patients With Inherited Disorders of the Propionate Pathway.

Backbone assignments of the biotin carboxyl carrier protein domain of Propionyl CoA carboxylase of Leishmania major and its interaction with its cognate Biotin protein ligase.

Development of a signs and symptoms outcome measure for caregivers of patients with methylmalonic acidemia and propionic acidemia (MMAPAQ).

Unusual Presentation of Propionic Acidemia Mimicking Botulism in an Infant: A Case Report and Literature Review.

Genetic disease amongst the Plain community.

[Epilepsy and inborn errors of metabolism].

Propionic Acidemia, Methylmalonic Acidemia, and Cobalamin C Deficiency: Comparison of Untargeted Metabolomic Profiles.

Propionyl-CoA metabolism links chromatin acylation to cardiac transcription.

Development of Brain Penetrant Pyridazine Pantothenate Kinase Activators.

Biochemical Pattern of Methylmalonyl-CoA Epimerase Deficiency Identified in Newborn Screening: A Case Report.

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.

Hypogammaglobulinemia Class G Is Present in Compensated and Decompensated Patients with Propionate Defects, Independent of Their Nutritional Status.

Survival of propionic acidemia patients with liver transplant.

Fasting alleviates metabolic alterations in mice with propionyl-CoA carboxylase deficiency due to Pcca mutation.

An Early Cost-Utility Model of mRNA-Based Therapies for the Treatment of Methylmalonic and Propionic Acidemia in the United Kingdom.

NMR Spectroscopy in Diagnosis and Monitoring of Methylmalonic and Propionic Acidemias.

Aminotransferase trends in propionic acidemia.

Characterizing the mechanism of action for mRNA therapeutics for the treatment of propionic acidemia, methylmalonic acidemia, and phenylketonuria.

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.

Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias.

Establishment of a non-integrated iPSC line (SDQLCHi043-A) from a male infant with propionic acidemia carrying compound heterozygote mutations in PCCB gene.

Coexistence of Two Rare Conditions Complicating the Other's Management: Propionic Acidemia and Apert Syndrome.

Regulating PCCA gene expression by modulation of pseudoexon splicing patterns to rescue enzyme activity in propionic acidemia.

Intellectual disability and autism in propionic acidemia: a biomarker-behavioral investigation implicating dysregulated mitochondrial biology.

Real-World Experience of Carglumic Acid for Methylmalonic and Propionic Acidurias: An Interim Analysis of the Multicentre Observational PROTECT Study.

Propionic Acidemia, Cardiomyopathies, and Arrhythmias.

Validity and reliability of the MetabQoL 1.0 and assessment of neuropsychiatric burden in organic acidemias: Reflections from Turkey.

Functional analysis of novel variants identified in cis in the PCCB gene in a patient with propionic acidemia.

A common benign intronic deletion masking a pathogenic deep intronic PCCB variant - genome sequencing and RNA studies to the rescue.

Evaluating renin and aldosterone levels in children with organic acidemia-therapeutic experience with fludrocortisone.

Systemic gene therapy using an AAV44.9 vector rescues a neonatal lethal mouse model of propionic acidemia.

Retrospective study of propionic acidemia using natural language processing in Mayo Clinic electronic health record data.

Prevalence of propionic acidemia in China.

Domino liver transplantation for maple syrup urine disease in children: A single-center case series.

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.

Gene therapy for organic acidemias: Lessons learned from methylmalonic and propionic acidemia.

Pathophysiological mechanisms of complications associated with propionic acidemia.

[Research progress on the prognosis of patients with various types of Methylmalonic acidemia].

Acyl-CoA dehydrogenase substrate promiscuity: Challenges and opportunities for development of substrate reduction therapy in disorders of valine and isoleucine metabolism.

Challenges and strategies for clinical trials in propionic and methylmalonic acidemias.

Identification and characterization of the largest deletion in the PCCA gene causing severe acute early-onset form of propionic acidemia.

Application of machine learning tools and integrated OMICS for screening and diagnosis of inborn errors of metabolism.

CryoEM reveals oligomeric isomers of a multienzyme complex and assembly mechanics.

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.

Newborn Screening Conditions: Early Intervention and Probability of Developmental Delay.

New insights into the pathophysiology of methylmalonic acidemia.

Safety, efficacy, and timing of transplantation(s) in propionic and methylmalonic aciduria.

[A case of late-onset propionic acidemia with isolated dilated cardiomyopathy].

A Deadly Case of Dehydration: Organic Acidemias in the Emergency Department.

Design and Outcomes of a Novel Multidisciplinary Ophthalmic Genetics Clinic.

SARS-CoV-2 BA.2 (Omicron) variant infection in pediatric liver transplanted recipients and cohabitants during 2022 Shanghai outbreak: a prospective cohort.

Dysregulated Cell Homeostasis and miRNAs in Human iPSC-Derived Cardiomyocytes from a Propionic Acidemia Patient with Cardiomyopathy.

Development of a Universal Second-Tier Newborn Screening LC-MS/MS Method for Amino Acids, Lysophosphatidylcholines, and Organic Acids.

Combined heart and liver transplantation in a patient supported by left ventricular assist device (LVAD) with propionic acidemia.

Successfully Navigating Food and Drug Administration Orphan Drug and Rare Pediatric Disease Designations for AAV9-hPCCA Gene Therapy: The National Institutes of Health Platform Vector Gene Therapy Experience.

Evaluation of Right Ventricular Function in Patients with Propionic Acidemia-A Cross-Sectional Study.

Newborn screening for inborn errors of metabolism in a northern Chinese population.

Neuropsychological endpoints for clinical trials in methylmalonic acidemia and propionic acidemia: A pilot study.

Vitamin B12 Deficiency (Un-)Detected Using Newborn Screening in Norway.

Case report: A unusual case of delayed propionic acidemia complicated with subdural hematoma.

How guideline development has informed clinical research for organic acidurias (et vice versa).

Translational Pharmacokinetic/Pharmacodynamic Model for mRNA-3927, an Investigational Therapeutic for the Treatment of Propionic Acidemia.

Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases.

Solid organ transplantation in methylmalonic acidemia and propionic acidemia: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).

Rare disease therapeutics: The future of medical genetics in a changing landscape.

Detection of early cardiac disease manifestation in propionic acidemia - Results of a monocentric cross-sectional study.

Natural history of propionic acidemia in the Amish population.

Recent tPA administration can cause pseudo-hyperargininemia and may mimic arginase deficiency or arginine supplementation.

Altered gut microbiome diversity and function in patients with propionic acidemia.

Relief of CoA sequestration and restoration of mitochondrial function in a mouse model of propionic acidemia.

Development of simple and effective PCR based assay to detect PCCA mutation (c.425G > A) among Saudi carriers and functional study of the homozygous PCCA mutations.

A Rare Case of Propionic Acidemia in a Six Months Female Child.

[Phenotypes and genotypes of 78 patients with propionic acidemia].

Organic acidemias in the neonatal period: 30 years of experience in a referral center for inborn errors of metabolism.

Identification of potential interferents of methylmalonic acid: A previously unrecognized pitfall in clinical diagnostics and newborn screening.

Propionic acidemia: a rare cause of dilated cardiomyopathy and long QT syndrome.

Newborn screening for propionic, methylmalonic acidemia and vitamin B12 deficiency. Analysis of 588,793 newborns.

Ventricular Arrhythmias in a Patient With Propionic Acidemia.

Neuropathological report of propionic acidemia.

O-GlcNAcylation enhances CPS1 catalytic efficiency for ammonia and promotes ureagenesis.

Plasma CoQ10 Status in Patients with Propionic Acidaemia and Possible Benefit of Treatment with Ubiquinol.

Long-term use of carglumic acid in methylmalonic aciduria, propionic aciduria and isovaleric aciduria in Italy: a qualitative survey.

Disruption of mitochondrial functions involving mitochondrial permeability transition pore opening caused by maleic acid in rat kidney.

Update on breastfeeding in newborns with inborn errors of intermediary metabolism.

[Differential diagnosis of a Chinese pedigree with methylmalonic acidemia by next-generation sequencing].

Metabolomics-based safety evaluation of acute exposure to electronic cigarettes in mice.

[Disease spectrum analysis of children with inherited metabolic diseases detected by gas chromatography-mass spectrometry of urinary organic acids].

Development, validation, and uncertainty measurement of HPLC-DAD method for determination of some free amino acids in infant formula and medical food products for inborn errors of metabolism.

Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data.

Immunological Memory and Affinity Maturation After Vaccination in Patients With Propionic Acidemia.

Case Report: Novel Mutations in the PCCB Gene Causing Late-Onset Propionic Acidemia.

Analysis of the relationship between phenotypes and genotypes in 60 Chinese patients with propionic acidemia: a fourteen-year experience at a tertiary hospital.

Novel compound heterozygous variants in the PCCB gene causing adult-onset propionic acidemia presenting with neuropsychiatric symptoms: a case report and literature review.

Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.

The markers of the organic acidemias and their ratios in healthy neonates in Serbian population.

Screening for Methylmalonic and Propionic Acidemia: Clinical Outcomes and Follow-Up Recommendations.

Therapeutic potential of living donor liver transplantation from heterozygous carrier donors in children with propionic acidemia.

The re-occurrence of dilated cardiomyopathy in propionic acidemia after liver transplantation requiring heart transplant, first case from Middle East.

Interorgan amino acid interchange in propionic acidemia: the missing key to understanding its physiopathology.

Inborn error of metabolism patients after liver transplantation: Outcomes of 35 patients over 27 years in one pediatric quaternary hospital.

Biomarkers for drug development in propionic and methylmalonic acidemias.

An investigation of different intracellular parameters for Inborn Errors of Metabolism: Cellular stress, antioxidant response and autophagy.

Determining ideal balance among branched-chain amino acids in medical formula for Propionic Acidemia: A proof of concept study in healthy children.

Assessing Gut Microbiota in an Infant with Congenital Propionic Acidemia before and after Probiotic Supplementation.

Fully Automated Quantitative Measurement of Serum Organic Acids via LC-MS/MS for the Diagnosis of Organic Acidemias: Establishment of an Automation System and a Proof-of-Concept Validation.

Propionic acidemia in mice: Liver acyl-CoA levels and clinical course.

Transient Insulin Resistance in Propionic Acidaemia: Knowing is half the battle.

Altered immune response in organic acidemia.

Selective screening for inborn errors of metabolism by tandem mass spectrometry at Sohag University Hospital, Egypt.

Functional neurologic disorders in an adult with propionic acidemia: a case report.

Long QT as a first sign for propionic acidemia in a 10-year-old girl.

Whole-genome amplification/preimplantation genetic testing for propionic acidemia of successful pregnancy in an obligate carrier Mexican couple: A case report.

Anesthetic Management of Children With Propionic Acidemia Undergoing Esophagogastroduodenoscopy.

Novel mutation causing propionic acidemia associated with unexplained autoimmune thyrotoxicosis.

Metabolic perturbations mediated by propionyl-CoA accumulation in organs of mouse model of propionic acidemia.

Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial.

Pantothenate kinase activation relieves coenzyme A sequestration and improves mitochondrial function in mice with propionic acidemia.

Dietary management and growth outcomes in children with propionic acidemia: A natural history study.

Inborn errors of metabolism and coronavirus disease 2019: Evaluation of the metabolic outcome.

Mitochondrial damage in renal epithelial cells is potentiated by protein exposure in propionic aciduria.

Current Perspectives on Neonatal Screening for Propionic Acidemia in Japan: An Unexpectedly High Incidence of Patients with Mild Disease Caused by a Common PCCB Variant.

Novel vectors and approaches for gene therapy in liver diseases.

PHKA2 variants expand the phenotype of phosphorylase B kinase deficiency to include patients with ketotic hypoglycemia only.

Orthopaedic Problems in 35 Patients With Organic Acid Disorders.

Severity modeling of propionic acidemia using clinical and laboratory biomarkers.

Severe anemia in patients with Propionic acidemia is associated with branched-chain amino acid imbalance.

COVID-19 in a child with severe propionic acidemia.

Anesthetic Management of a Child With Propionic Acidemia Complicated by Bacteremia and Severe Acute Respiratory Syndrome Coronavirus 2.

Long term follow-up of the dietary intake in propionic acidemia.

Anesthetic Management for Pediatric Liver Transplantation in a Patient With Propionic Acidemia: A Case Report.

Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns.

Functional Analysis of the PCCA and PCCB Gene Variants Predicted to Affect Splicing.

Identification of 2,2-Dimethylbutanoic Acid (HST5040), a Clinical Development Candidate for the Treatment of Propionic Acidemia and Methylmalonic Acidemia.

Novel variants of the PCCB gene in Chinese patients with propionic acidemia.

[Identification of two novel variants of the PCCB gene in a pedigree affected with propionic acidemia].

A novel small molecule approach for the treatment of propionic and methylmalonic acidemias.