Last Posted: Sep 23, 2021
- Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis.
D'Annibale Olivia M et al. Molecular genetics and metabolism 2021
- Tandem Mass Spectrometry Screening for Inborn Errors of Metabolism in Newborns and High-Risk Infants in Southern China: Disease Spectrum and Genetic Characteristics in a Chinese Population.
Tan Jianqiang et al. Frontiers in genetics 2021 12631688
- [The Newborn Screening Program in Italy: Comparison with Europe and other Countries.]
la Marca Giancarlo et al. Revista espanola de salud publica 2021 Jan 95
- Brief Report: Delayed Diagnosis of Treatable Inborn Errors of Metabolism in Children with Autism and Other Neurodevelopmental Disorders.
Márquez-Caraveo María Elena et al. Journal of autism and developmental disorders 2020 Sep
- Newborn screening for isovaleric acidemia in Quanzhou, China.
Lin Yiming et al. Clinica chimica acta; international journal of clinical chemistry 2020 Jun
- Inborn errors of metabolism detectable by tandem mass spectrometry in Beijing.
Yang Nan et al. Journal of pediatric endocrinology & metabolism : JPEM 2020 Apr
- Molecular analysis using targeted next generation DNA sequencing and clinical spectrum of Mexican patients with isovaleric acidemia.
Ibarra-González Isabel et al. Clinica chimica acta; international journal of clinical chemistry 2019 Nov
- 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
- The Risk of Fatty Acid Oxidation Disorders and Organic Acidemias in Children with Normal Newborn Screening.
Wilson Callum et al. JIMD reports 2016 Dec
- 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
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics 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.