Clinical Phenotype and Genotype of Children with Borderline Sweat Test and Abnormal Nasal Epithelial Chloride Transport
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F10%3A6321" target="_blank" >RIV/00064203:_____/10:6321 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/10:6321
Result on the web
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DOI - Digital Object Identifier
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Alternative languages
Result language
angličtina
Original language name
Clinical Phenotype and Genotype of Children with Borderline Sweat Test and Abnormal Nasal Epithelial Chloride Transport
Original language description
A significant number of children have symptoms suggestive of cystic fibrosis (CF) but cannot be definitively diagnosed because they have a sweat chloride level in the intermediate range, between 30 and 60 mmol/L, and only one or no identified CF-causingmutation. Our collaborative international study in children in this equivocal situation found that those with nasal potential difference results in the CF range were significantly younger at evaluation, had significantly more frequent symptoms consistentwith CF lung disease, and were subsequently found to carry two cystic fibrosis transmembrane conductance regulator (CFTR) mutations more often. Evaluation of CFTR function in the nasal epithelium of children with inconclusive CF diagnoses can be a useful diagnostic tool and help clinicians to individualize therapeutic strategy.
Czech name
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FC - Pneumology
OECD FORD branch
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Result continuities
Project
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Continuities
Z - Vyzkumny zamer (s odkazem do CEZ)
Others
Publication year
2010
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
American Journal of Respiratory and Critical Care Medicine
ISSN
1073-449X
e-ISSN
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Volume of the periodical
182
Issue of the periodical within the volume
7
Country of publishing house
US - UNITED STATES
Number of pages
8
Pages from-to
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UT code for WoS article
000282673200013
EID of the result in the Scopus database
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