Cystic fibrosis diagnosis: New dilemmas for an old disorder

Pediatric Pulmonology

Volumn 33, Issue 2, 2002, Pages 83-84

  Rosenstein, Beryl J ^a  

^a JOHNS HOPKINS HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

AZOOSPERMIA; CHILD; CLINICAL FEATURE; CLINICAL PROTOCOL; CYSTIC FIBROSIS; DIAGNOSTIC TEST; EDITORIAL; GENE MUTATION; HUMAN; INFANT; LABORATORY TEST; MALE; PHENOTYPE; PRIORITY JOURNAL; SWEAT TEST; VAS DEFERENS;

CODON, NONSENSE; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DIAGNOSIS, DIFFERENTIAL; HUMANS; MUTATION; PHENOTYPE; SWEAT;

EID: 0036161607     PISSN: 87556863     EISSN: None     Source Type: Journal    
DOI: 10.1002/ppul.10053     Document Type: Editorial

References (15)

1. Cystic fibrosis: Keeping it in the family
2. Intermediate sweat chloride concentration and Pseudomonas bronchitis
3. Low sweat electrolytes in a patient with cystic fibrosis
4. Atypical cystic fibrosis of the pancreas with normal levels of sweat chloride and minimal pancreatic lesions
5. Relative ion permeability of normal and cystic fibrosis nasal epithelium
6. Uncertainty in the diagnosis of cystic fibrosis: Possible role of in vivo nasal potential difference measurements
7. In vivo nasal potential difference: Techniques and protocols for assessing efficacy of gene transfer in cystic fibrosis
8. The diagnosis of cystic fibrosis: A consensus statement
9. Time to think again: Cystic fibrosis is not an "all or nothing" disease
10. Cystic-fibrosis-like disease unrelated to the cystic fibrosis transmembrane conductance regulator
11. A mutation in the cystic fibrosis transmembrane conductance regulator gene associated with elevated sweat chloride concentrations in the absence of cystic fibrosis
12. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens
13. Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens
14. Sweat chloride concentrations in infants homozygous or heterozygous for AF508 cystic fibrosis