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Refining the continuum of CFTR-associated disorders in the era of newborn screening

Clinical heterogeneity in cystic fibrosis (CF) often causes diagnostic uncertainty in infants without symptoms and in older patients with milder phenotypes. We performed a cross-sectional evaluation of a comprehensive set of clinical and laboratory descriptors in a physician-defined cohort (N = 376;...

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Detalhes bibliográficos
Publicado no:Clin Genet
Main Authors: Levy, H., Nugent, M., Schneck, K., Stachiw-Hietpas, D., Laxova, A., Lakser, O., Rock, M., Dahmer, M.K., Biller, J., Nasr, S.Z., Baker, M., McColley, S.A., Simpson, P., Farrell, P.M.
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5389888/
https://ncbi.nlm.nih.gov/pubmed/26671754
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.12711
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