Time to think again: Cystic fibrosis is not an 'all or none' disease

Pediatric Pulmonology

Volumn 30, Issue 2, 2000, Pages 139-144

  Helms, Peter J ^a  

^a UNIVERSITY OF ABERDEEN   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

CASE REPORT; CLINICAL FEATURE; CYSTIC FIBROSIS; DIAGNOSTIC APPROACH ROUTE; FAILURE TO THRIVE; FEMALE; GENE MUTATION; HUMAN; INFANT; LABORATORY TEST; NEWBORN SCREENING; NOTE; PHENOTYPE; PRIORITY JOURNAL;

CASE REPORT; CYSTIC FIBROSIS; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; FEMALE; HUMAN; INFANT; MALE; PHENOTYPE; SEVERITY OF ILLNESS INDEX; SWEAT;

EID: 0033866283     PISSN: 87556863     EISSN: None     Source Type: Journal    
DOI: 10.1002/1099-0496(200008)30:2<139::AID-PPUL9>3.0.CO;2-H     Document Type: Note

References (20)

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4. Protocols for in vivo measurement of the ion transport defects in cystic fibrosis nasal epithelium
5. Cystic fibrosis
6. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens
7. Relations between mutations of the cystic fibrosis gene and idiopathic pancreatitis
8. The diagnosis of cystic fibrosis: A consensus statement
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10. Pancreatitis and mutations of the cystic fibrosis gene
11. The diagnosis of cystic fibrosis
12. Cystic fibrosis with three mutations in the cystic fibrosis transmembrane regulator gene
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14. Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA
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18. Intestinal current measurements as a diagnostic test for CF compared to genetic analysis and sweat tests
19. Diagnosing cystic fibrosis
20. Diagnosing cystic fibrosis: Blood, sweat and tears