How to define CRMS/CFSPID conversion to CF
- PMID: 32407573
- DOI: 10.1002/ppul.24819
How to define CRMS/CFSPID conversion to CF
Comment on
-
Phenotype of children with inconclusive cystic fibrosis diagnosis after newborn screening.Pediatr Pulmonol. 2020 Apr;55(4):918-928. doi: 10.1002/ppul.24634. Epub 2020 Jan 9. Pediatr Pulmonol. 2020. PMID: 31916691
References
REFERENCES
-
- Munck A, Bourmaud A, Bellon G, et al. Phenotype of children with inconclusive cystic fibrosis diagnosis after newborn screening. Pediatr Pulmonol. 2020;55(4):918-928. https://doi.org/10.1002/ppul.24634
-
- Southern KW, Barben J, Gartner S, et al. Inconclusive diagnosis after a positive newborn bloodspot screening result for cystic fibrosis; clarification of the harmonized international definition. J Cyst Fibros. 2019;18:778-780.
-
- Ooi CY, Castellani C, Keenan K, et al. Inconclusive diagnosis of cystic fibrosis after newborn screening. Pediatrics. 2015;135:e1377-e1385.
-
- Sosnay PR, Siklosi KR, Van Goor F, et al. Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. Nat Genet. 2013;45:1160-1167.
-
- Clinical and Functional Translation of CFTR. https://www.cftr2.org
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Medical