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Last Posted: May 28, 2024

• An Early Cost-Utility Model of mRNA-Based Therapies for the Treatment of Methylmalonic and Propionic Acidemia in the United Kingdom.
  Pablo E Bretos-Azcona et al. Clin Drug Investig 2024
• mRNA drug offers hope for treating a devastating childhood disease.
  Elie Dolgin et al. Nature 2024 4
• Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples.
  Esther M Maier et al. J Inherit Metab Dis 2023
• Newborn Screening Conditions: Early Intervention and Probability of Developmental Delay.
  Elizabeth Reynolds et al. J Dev Behav Pediatr
• Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases.
  Kim Man Jin et al. Annals of laboratory medicine 2022 43(3) 280-289
• Organic acidemias in the neonatal period: 30 years of experience in a referral center for inborn errors of metabolism.
  Unsal Yagmur et al. Journal of pediatric endocrinology & metabolism : JPEM 2022
• Screening for Methylmalonic and Propionic Acidemia: Clinical Outcomes and Follow-Up Recommendations.
  Held Patrice K et al. International journal of neonatal screening 2022 8(1)
• Selective screening for inborn errors of metabolism by tandem mass spectrometry at Sohag University Hospital, Egypt.
  Magdy Rofaida M et al. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2021
• SARS-CoV-2 infection in a patient with propionic acidemia.
  Caciotti Anna et al. Orphanet journal of rare diseases 2020 Oct 15(1) 306
• Nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD): An evidence- and consensus-based approach.
  Van Calcar S C et al. Molecular genetics and metabolism 2020 Oct
• Plasma Methylcitric Acid and Its Correlations With Other Disease Biomarkers: The Impact in The Follow Up of Patients With Propionic and Methylmalonic Acidemia.
  Maines E et al. Journal of inherited metabolic disease 2020 Jul
• Inborn errors of metabolism detectable by tandem mass spectrometry in Beijing.
  Yang Nan et al. Journal of pediatric endocrinology & metabolism : JPEM 2020 Apr
• Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: what to aim, expect and evaluate from newborn screening?
  Haijes H A et al. Journal of inherited metabolic disease 2019 Dec
• Diagnostic contribution of metabolic workup for neonatal inherited metabolic disorders in the absence of expanded newborn screening.
  Bower Alexandra et al. Scientific reports 2019 Oct 9(1) 14098
• Systematic literature review and meta-analysis on the epidemiology of propionic acidemia.
  Almási Tímea et al. Orphanet journal of rare diseases 2019 Feb 14(1) 40
• Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening.
  Shibata Naoaki et al. Molecular genetics and metabolism reports 2018 Sep 165-10
• Quantification of 2-methylcitric acid in dried blood spots improves newborn screening for propionic and methylmalonic acidemias.
  Al-Dirbashi Osama Y et al. Journal of medical screening 2017 Jun 24(2) 58-61
• Inborn errors of metabolism detectable by tandem mass spectrometry in Egypt: The first newborn screening pilot study.
  Hassan Fayza A et al. Journal of medical screening 2016 Sep 23(3) 124-9
• Comparison of Methods of Initial Ascertainment in 58 Cases of Propionic Acidemia Enrolled in the Inborn Errors of Metabolism Information System Reveals Significant Differences in Time to Evaluation and Symptoms at Presentation.
  McCrory Nicholas M et al. The Journal of pediatrics 2017 Jan 180200-205.e8
• Development of carrier testing for common inborn errors of metabolism in the Wisconsin Plain population.
  Kuhl Ashley et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Aug
• Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism.
  Scolamiero Emanuela et al. Molecular bioSystems 2015 Jun 11(6) 1525-35
• Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.
  Baumgartner Matthias R et al. Orphanet J Rare Dis 2014 130
• An Economic Evaluation of Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry in Thailand.
  Thiboonboon Kittiphong et al. PLoS ONE 10(8) e0134782
• Propionic acidemia
  From NCATS Genetic and Rare Diseases Information Center