• A Case Report of a Novel Isovaleryl-CoA Dehydrogenase Gene Mutation in a Chinese Family with Isovaleric Acidemia
• A Deadly Case of Dehydration: Organic Acidemias in the Emergency Department
• A multiomics approach reveals evidence for phenylbutyrate as a potential treatment for combined D,L-2- hydroxyglutaric aciduria
• A novel mitochondrial DNA variant in <em>MT-ND6:</em> m.14430A&gt;C p.(Trp82Gly) identified in a patient with Leigh syndrome and complex I deficiency
• Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS)
• Amino acid ratio combinations as biomarkers for discriminating patients with pyruvate dehydrogenase complex deficiency from other inborn errors of metabolism
• An Irreversible Radiological Finding of Lentiform Fork Sign in a Patient With Uremic Encephalopathy: A Case Report
• Anaesthetic Management of a Child with Propionic Acidemia
• Analysis of a second-tier test panel in dried blood spot samples using liquid chromatography-tandem mass spectrometry in Catalonia's newborn screening programme
• Application of machine learning tools and integrated OMICS for screening and diagnosis of inborn errors of metabolism
• Biochemical and molecular features of chinese patients with glutaric acidemia type 1 from Fujian Province, southeastern China
• Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia
• Cardiac Involvement in Classical Organic Acidurias: Clinical Profile and Outcome in a Pediatric Cohort
• Cerebral White Matter Alterations Associated With Oligodendrocyte Vulnerability in Organic Acidurias: Insights in Glutaric Aciduria Type I
• Challenges and strategies for clinical trials in propionic and methylmalonic acidemias
• China nationwide landscape of 16 types inherited metabolic disorders: a retrospective analysis on 372,255 clinical cases
• Classic Isovaleric Acidemia
• Clinical and Molecular Genetic Analysis with Methylmalonic Acidemia Combined with Homocystinuria
• Clinico-Biochemical Spectrum of Pakistani Patients with Glutaric Aciduria Type 1 (GA1): Experience from a Specialised Biochemical Genetics Laboratory in Pakistan
• Closing the gap: An urgent need for newborn screening of organic acid disorders in developing countries
• Coexistence of Two Rare Conditions Complicating the Other's Management: Propionic Acidemia and Apert Syndrome
• Combined Malonic and Methylmalonic Aciduria Diagnosed by Recurrent and Severe Infections Mimicking a Primary Immunodeficiency Disease: A Case Report
• Comparative analysis of inherited metabolic diseases in normal newborns and high-risk children: Insights from a 10-year study in Shanghai
• Concurrent combined methylmalonic acidemia and homocystinuria with down syndrome in a Chinese preschool Child: An in-depth case report and literature review
• 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
• Evaluation of the risk factors for noncommunicable diseases in patients with inborn errors of amino acid metabolism receiving nutrition therapy
• 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
• Genetic background and clinical characteristics of infantile hyperammonemia
• Getting the diagnostic clue, role of MRI in the diagnosis of type 1 Glutaric aciduria in resource-limited settings
• Glutaryl-CoA Dehydrogenase Misfolding in Glutaric Acidemia Type 1
• Inborn errors of metabolism and pregnancy
• Intellectual disability and autism in propionic acidemia: a biomarker-behavioral investigation implicating dysregulated mitochondrial biology
• Isovaleric Acidemia in Jordan
• Isovaleric Acidemia: A Case Report
• Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation
• Liver-directed gene therapy for inherited metabolic diseases
• Long-term neurodevelopmental outcomes following liver transplantation for metabolic disease-a single centre experience
• Metabolic Evaluation in Children aged 3 months to 2 years with Global Developmental Delay
• Multisystem inflammatory syndrome in children with Kawasaki disease-like manifestations in MMA
• New insights into the pathophysiology of methylmalonic acidemia
• Newborn screening for isovaleric acidemia: A case report of a Chinese patient with novel variants
• NMR Spectroscopy in Diagnosis and Monitoring of Methylmalonic and Propionic Acidemias
• Persistent pulmonary hypertension of the newborn due to methylmalonic acidemia: a case report and review of the literature
• Phenotypic prediction in glutaric aciduria type 1 combining in silico and in vitro modeling with real-world data
• Prevalence, Clinic-Etiological Spectrum and Outcome of Pediatric Metabolic Epilepsy - A Single Centre Experience
• Real-World Experience of Carglumic Acid for Methylmalonic and Propionic Acidurias: An Interim Analysis of the Multicentre Observational PROTECT Study
• 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
• Screening of 1.17 million newborns for inborn errors of metabolism using tandem mass spectrometry in Shanghai, China: A 19-year report
• Seizure Characteristics and EEG Features in Intoxication Type and Energy Deficiency Neurometabolic Disorders in the Pediatric Intensive Care Unit: Single-Center Experience Over 10 Years
• 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
• Validity and reliability of the MetabQoL 1.0 and assessment of neuropsychiatric burden in organic acidemias: Reflections from Turkey
• Vitamin B2 enables regulation of fasting glucose availability