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Atypical Cystic Fibrosis--diagnostic and Management Dilemmas

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Journal J R Soc Med
Specialty General Medicine
Date 2003 Aug 9
PMID 12906319
Citations 8
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References
1.
Bush A, Wallis C . Time to think again: cystic fibrosis is not an "all or none" disease. Pediatr Pulmonol. 2000; 30(2):139-44. DOI: 10.1002/1099-0496(200008)30:2<139::aid-ppul9>3.0.co;2-h. View

2.
Choudari C, Lehman G, Sherman S . Pancreatitis and cystic fibrosis gene mutations. Gastroenterol Clin North Am. 1999; 28(3):543-9, vii-viii. DOI: 10.1016/s0889-8553(05)70072-8. View

3.
Abdul Wahab A, Al Thani G, Dawod S, Kambouris M, Al Hamed M . Heterogeneity of the cystic fibrosis phenotype in a large kindred family in Qatar with cystic fibrosis mutation (I1234V). J Trop Pediatr. 2001; 47(2):110-2. DOI: 10.1093/tropej/47.2.110. View

4.
Mekus F, Ballmann M, Bronsveld I, Bijman J, Veeze H, Tummler B . Categories of deltaF508 homozygous cystic fibrosis twin and sibling pairs with distinct phenotypic characteristics. Twin Res. 2001; 3(4):277-93. DOI: 10.1375/136905200320565256. View

5.
Kosorok M, Zeng L, West S, Rock M, Splaingard M, Laxova A . Acceleration of lung disease in children with cystic fibrosis after Pseudomonas aeruginosa acquisition. Pediatr Pulmonol. 2001; 32(4):277-87. DOI: 10.1002/ppul.2009.abs. View