Journal Information
Vol. 36. Issue 1.
Pages 3-6 (January 2000)
Vol. 36. Issue 1.
Pages 3-6 (January 2000)
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El diagnóstico de la fibrosis quística en el adulto
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Bibliografía
[1.]
L. Máiz, y Grupo de Trabajo de Fibrosis Quística de la Sociedad Madrileña de Neumología, Cirugía Torácica.
Estudio epidemiológico de pacientes con fibrosis quística atendidos en la Comunidad Autónoma de Madrid.
Neumomadrid-par, 2 (1999), pp. 13-17
[2.]
L.E. Gibson, R.E. Cooke.
A test for concentration of electrolytes in sweat in cystic fibrosis of the pancreas utilizing pilocarpine by iontophoresis.
Pediatrics, 23 (1959), pp. 545-549
[3.]
J.R. Riordan, J.M. Rommens, B.S. Kerem, N. Alon, R. Rozmahel, Z. Grzelczak, et al.
Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.
Science, 245 (1989), pp. 1066-1072
[4.]
B.J. Rosenstein, G.R. Cutting.
The diagnosis of cystic fibrosis: a consensus statement.
J Pediatr, 132 (1998), pp. 589-595
[5.]
R.C. Stern.
The diagnosis of cystic fibrosis.
N Engl J Med, 336 (1997), pp. 487-491
[6.]
A. Salcedo, G. García, M.C. Antelo, M.I. Barrio, R.M. Girón.
Diagnóstico de la fibrosis quística.
Neumadrid-par, 2 (1999), pp. 25-33
[7.]
K.H. Gan, W.P. Geus, W. Bakker, C.B.H.W. Lamers, G.M. Heijerman.
Genetic and clinical features of patients with cystic fibrosis diagnosed after the age of 16 years.
Thorax, 50 (1995), pp. 1301-1304
[8.]
J.A. Cohn, K.J. Friedman, P.G. Noone, M.R. Knowles, L.M. Silverman, P.S. Jowell.
Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis.
N Engl J Med, 339 (1998), pp. 653-658
[9.]
M. Chillón, T. Casals, B. Mercier, L. Bassas, W. Lissens, S. Silber, et al.
Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.
N Engl J Med, 332 (1995), pp. 1475-1480
[10.]
P.M. Farrell, R. Koscik.
Sweat chloride concentrations in infants homozygous or heterozygous for F508 cysctic fibrosis.
Pediatrics, 97 (1996), pp. 524-528
[11.]
V.A. LeGrys.
Sweat testing for the diagnosis of cystic fibrosis: practical considerations.
J Pediatr, 129 (1996), pp. 892-897
[12.]
B.J. Rosenstein.
What is a cystic fibrosis diagnosis?.
Clin Chet Med, 19 (1998), pp. 433-441
[13.]
B. Stewart, J. Zabner, A.P. Shuber, M.J. Welsh, P.B. McCray.
Normal sweat chloride values do no exclude the diagnosis of cystic fibrosis.
Am J Respir Crit Care Med, 151 (1995), pp. 899-903
[14.]
W.E. Highsmith, L.H. Burch, Z. Zhou, J.C. Olsen, T.E. Boet, A. Spock, et al.
A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations.
N Engl J Med, 331 (1994), pp. 974-980
[15.]
T.V. Strong, L.S. Smit, S.V. Turpin, J.L. Cole, C.T. Hon, D. Markiewicz, et al.
Cystic fibrosis gene mutation in two sisters with mild disease and normal sweat electrolyte levels.
N Engl J Med, 325 (1991), pp. 1630-1634
[16.]
T. Casals, M.D. Ramos, J. Giménez, S. Larriba, V. Nones, X. Estivill.
High heterogeneity for cystic fibrosis in Spanish families: 75 mutations account for 90% of chromosomes.
Hum Genet, 101 (1997), pp. 365-370
[17.]
The Cystic Fibrosis Genotype-Phenotype Consortium.
Correlation between genotype and phenotype in patients with cystic fibrosis.
N Engl J Med, 329 (1993), pp. 1308-1313
[18.]
C.S. Chu, B.C. Trapnell, S. Curristin, G.R. Cuttieng, R.G. Crystal.
Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA.
Nat Genet, 3 (1993), pp. 151-156
[19.]
E. Kerem, N. Rave-Harel, A. Augarten, I. Magdar, M. Nissim-Rafinia, Y. Yahav, et al.
A cystic fibrosis transmembrane conductance regulator splice variant with partial penetrance associated with variable cystic fibrosis presentations.
Am J Respir Crit Care Med, 155 (1997), pp. 1914-1920
[20.]
A. Augarten, B.S. Kerem, Y. Yahav, S. Noiman, Y. Rivlin, A. Tal, et al.
Mild cystic fibrosis and normal or borderline sweat test in patients with the 3849 + 10 Kb C →T mutation.
Lancet, 342 (1993), pp. 25-26
[21.]
R. Stern, C.F. Doershuk, M. Drumm.
3849 + 10 Kb C →T mutation and disease severity in cystic fibrosis.
Lancet, 346 (1995), pp. 274-276
[22.]
D.H. Dreyfus, R. Bethel, E.W. Gelfand.
Cystic fibrosis 3849 + 10 Kb C →T mutation associated with severe pulmonary disease and male fertility.
Am J Respir Crit Care Med, 153 (1996), pp. 858-860
[23.]
T. Dork, U. Wulbrand, T. Richter, T. Neumann, H. Wolfes, B. Wulf, et al.
Cystic fibrosis with three mutations in the cystic fibrosis transmembrane conductance regulator gene.
Hum Genet, 87 (1991), pp. 441-446
[24.]
I. Bronsveld, J. Bijman, F. Mekus, M. Ballmann, H.J. Veeze, B. Tümmler.
Clinical presentation of exclusive cystic fibrosis lung disease.
Thorax, 54 (1999), pp. 278-281
[25.]
D.C. Wilson, L. Ellis, J. Zielenski, M. Corey, W.F. Ip, L.C. Tsui, et al.
Uncertainty in the diagnosis of cystic fibrosis: possible role of in vivo nasal potential difference measurements.
J Pediatr, 132 (1998), pp. 596-599
[26.]
M.R. Knowles, J. Gatzy, R.C. Boucher.
Increased bioelectric potential difference across respiratory epithelia in cystic fibrosis.
N Engl J Med, 305 (1981), pp. 1489-1495
[27.]
P.G. Middleton, D.M. Geddes, E.W.F.W. Alton.
Protocols for in vivo measurements of the ion transport defects in cystic fibrosis nasal epithelium.
Eur Respir J, 7 (1994), pp. 2050-2056
[28.]
I. Fajac, D. Hubert, T. Bienvenu, B. Richaud-Thiriez, R. Matran, J.C. Kaplan, et al.
Relationship between nasal potential difference and respiratory function in adults with cystic fibrosis.
Eur Respir J, 12 (1998), pp. 1295-1300
[29.]
L.P. Ho, J.M. Samways, D.J. Porteous, J.R. Dorin, A. Carothers, A.P. Greening, et al.
Correlation between nasal potential difference measurements genotype and clinical conditions in patients with cystic fibrosis.
Eur Respir J, 10 (1997), pp. 2018-2022
[30.]
T.C. Chinet.
Use of in vivo nasal transepithelial potential difference to evaluate efficacy in CF gene therapy phase I trials.
Eur Respir J, 7 (1994), pp. 1917-1920
[31.]
T. Hofmann, O. Böhmer, G. Hüls, H.G. Terbrack, P. Bittner, V. Klingmüller, et al.
Conventional and modified nasal potential-difference measurement in cystic fibrosis.
Am J Respir Crit Care Med, 155 (1997), pp. 1908-1913
[32.]
O. Duperrex, P.Y. Berclaz, D. Bertrand, J.S. Lacroix, N. Pochon, D. Belli, et al.
A new device for in vivo measurement of nasal transepithelial potential difference in cystic fibrosis patients and normal subjects.
Eur Respir J, 10 (1997), pp. 1631-1636
[33.]
B. Wilcken.
Neonatal screening for cystic fibrosis: it is time.
Pediatr Pulmonol, 26 (1998), pp. 219-221
[34.]
P.M. Farrell, M.R. Kosorok, A. Laxova, G. Shem, R.E. Koscik, W.T. Bruns, et al.
Nutritional benefits of neonatal screening for cystic fibrosis.
N Engl J Med, 337 (1997), pp. 963-969
[35.]
J. Wald, J.H. Morris.
Neonatal screening for cystic fibrosis.
No evidence yet of any benefit. Br Med J, 316 (1998), pp. 404-405
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