Methylmalonic 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 - Exploring factors impacting haplotype-based noninvasive prenatal diagnosis for single-gene recessive disorders.
Lingrong Kong et al. Clin Genet 2023 - Validation of a targeted metabolomics panel for improved second-tier newborn screening.
Mak Justin et al. Journal of inherited metabolic disease 2023 - 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 - Newborn screening for propionic, methylmalonic acidemia and vitamin B12 deficiency. Analysis of 588,793 newborns.
Martín-Rivada Álvaro et al. Journal of pediatric endocrinology & metabolism : JPEM 2022 - Man whose genetic condition went undiagnosed for 36 years is awarded £2.5m.
Thornton Jacqui et al. BMJ (Clinical research ed.) 2022 1 o238 - 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 - Spectrum analysis of inborn errors of metabolism for expanded newborn screening in a northwestern Chinese population.
Zhang Ruixue et al. Scientific reports 2021 Jan 11(1) 2699 - 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
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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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