Propionic Acidemia
What's New
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
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Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
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