Mukoviszidose – wenn die Diagnose unsicher bleibt
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Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1007/s00112-024-01964-2.pdf
Reference27 articles.
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3. Scotet V, Audrezet MP, Roussey M, Rault G, Dirou-Prigent A, Journel H et al (2006) Immunoreactive trypsin/DNA newborn screening for cystic fibrosis: should the R117H variant be included in CFTR mutation panels? Pediatrics 118:e1523–e1529
4. Mayell SJ, Munck A, Craig JV, Sermet I, Brownlee KG, Schwarz MJ et al (2009) A European consensus for the evaluation and management of infants with an equivocal diagnosis following newborn screening for cystic fibrosis. J Cyst Fibros 8:71–78
5. Barben J, Castellani C, Munck A, Davies JC, de Winter-de Groot KM, Gartner S et al (2020) Updated guidance on the management of children with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome/cystic fibrosis screen positive, inconclusive diagnosis (CRMS/CFSPID). J Cyst Fibros
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