Last Posted: Sep 21, 2023
- Biochemical and molecular characteristics among infants with abnormal newborn screen for very-long-chain acyl-CoA dehydrogenase deficiency: A single center experience.
Jariya Upadia et al. Mol Genet Metab Rep 2023 37101002
- Methods and feasibility study for exome sequencing as a universal second-tier test in newborn screening.
Ruiz-Schultz Nicole et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021 Jan
- New Ratios for Performance Improvement for Identifying Acyl-CoA Dehydrogenase Deficiencies in Expanded Newborn Screening: A Retrospective Study.
Wang Benjing et al. Frontiers in genetics 2019 10811
- Clinical and biochemical outcome of patients with very long-chain acyl-CoA dehydrogenase deficiency.
Rovelli Valentina et al. Molecular genetics and metabolism 2019 Apr
- Impact of NBS for VLCAD deficiency on genetic, enzymatic and clinical outcomes.
Bleeker Jeannette C et al. Journal of inherited metabolic disease 2019 Feb
- Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening.
Kang Eungu et al. BMC pediatrics 2018 Mar 18(1) 103
- Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database.
Pena Loren D M et al. Molecular genetics and metabolism 2016 Aug 118(4) 272-81
- Four Years' Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers.
Merinero B et al. JIMD reports 2017 Jul
- VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria.
Evans Maureen et al. Molecular genetics and metabolism 2016 May
- The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency.
Diekman Eugene et al. JIMD reports 2015 Oct
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.