Last Posted: May 11, 2023
- Lung clearance index in children with cystic fibrosis previously diagnosed with CRMS/CFSPID: A monocentric prospective experience.
Vito Terlizzi et al. Pediatr Pulmonol 2023
- Cost-effectiveness analysis of genetic tools to predict treatment response in patients with cystic fibrosis.
Yeva Sahakyan et al. J Cyst Fibros 2023
- Clinical Consequences and Functional Impact of the Rare S737F CFTR Variant and Its Responsiveness to CFTR Modulators.
Vito Terlizzi et al. Int J Mol Sci 2023 24(7)
- Gaps in Cystic Fibrosis Care Are Associated with Reduced Lung Function in the U.S. Cystic Fibrosis Foundation Patient Registry.
Edmund H Sears et al. Annals of the American Thoracic Society 2023
- Outcomes of children with cystic fibrosis screen positive, inconclusive diagnosis/CFTR related metabolic syndrome.
Mohini A Gunnett et al. Frontiers in pediatrics 2023 111127659
- Immunoreactive Trypsinogen in Infants Born to Women with Cystic Fibrosis Taking Elexacaftor-Tezacaftor-Ivacaftor.
Payal Patel et al. International journal of neonatal screening 2023 9(1)
- Cystic fibrosis prevalence in the United States and participation in the Cystic Fibrosis Foundation Patient Registry in 2020.
Elizabeth A Cromwell et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2023
- Standards of care for CFTR variant-specific therapy (including modulators) for people with cystic fibrosis.
Kevin W Southern et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2023 22(1) 17-30
- Sweat conductivity for diagnosing cystic fibrosis after positive newborn screening: prospective, diagnostic test accuracy study.
Renata Marcos Bedran et al. Archives of disease in childhood 2023
- Inherited causes of exocrine pancreatic insufficiency in pediatric patients: clinical presentation and laboratory testing.
Tatiana N Yuzyuk et al. Critical reviews in clinical laboratory sciences 2023 1-16
About Rare Diseases PHGKB
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.
- Page last reviewed:Feb 1, 2023
- Page last updated:Jun 02, 2023
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