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Volumn 49, Issue 3, 2014, Pages

Diagnosis of cystic fibrosis in the kindred of an infant with CFTR-related metabolic syndrome: Importance of follow-up that includes monitoring sweat chloride concentrations over time

Author keywords

CFTR Mutations; cystic fibrosis; sweat chloride testing

Indexed keywords

CFTR MUTATIONS; CYSTIC FIBROSIS; SWEAT CHLORIDE TESTING;

EID: 84894244421     PISSN: 87556863     EISSN: 10990496     Source Type: Journal    
DOI: 10.1002/ppul.22918     Document Type: Article
Times cited : (9)

References (15)
  • 1
    • 33645302747 scopus 로고    scopus 로고
    • The relevance of sweat testing for the diagnosis of cystic fibrosis in the genomic era
    • Mishra A, Greaves R, Massie J,. The relevance of sweat testing for the diagnosis of cystic fibrosis in the genomic era. Clin Biochem Rev 2005; 26: 135-153.
    • (2005) Clin Biochem Rev , vol.26 , pp. 135-153
    • Mishra, A.1    Greaves, R.2    Massie, J.3
  • 2
    • 84894233477 scopus 로고    scopus 로고
    • Upcoming Addition to Newborn Screening: Cystic Fibrosis and Biotinidase Deficiency
    • The California Newborn Screening Program - Newborn Screening News. California Department of Public Health, Genetic Disease Branch, Newborn Screening Program
    • The California Newborn Screening Program-Newborn Screening News. Upcoming Addition To Newborn Screening: Cystic Fibrosis and Biotinidase Deficiency. Summer 2007. California Department of Public Health, Genetic Disease Branch, Newborn Screening Program.
    • (2007) Summer
  • 3
    • 77449133011 scopus 로고    scopus 로고
    • Cystic fibrosis foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond
    • Cystic Fibrosis Foundation.
    • Cystic Fibrosis Foundation., Borowitz D, Parad RB, Sharp JK, Sabadosa KA, robinson KA, Rock MJ, Farrell PM, Sontag MK, Rosenfeld M, Davis SD, Marshall BC, Accurso FJ, Cystic fibrosis foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond. J Pediatr 2009; 155: S106-S116.
    • (2009) J Pediatr , vol.155
    • Borowitz, D.1    Parad, R.B.2    Sharp, J.K.3    Sabadosa, K.A.4    Robinson, K.A.5    Rock, M.J.6    Farrell, P.M.7    Sontag, M.K.8    Rosenfeld, M.9    Davis, S.D.10    Marshall, B.C.11    Accurso, F.J.12
  • 4
    • 81455131654 scopus 로고    scopus 로고
    • Clinical practices for intermediate sweat tests following abnormal cystic fibrosis newborn screens
    • Nelson MR, Adamski CR, Tluczek A,. Clinical practices for intermediate sweat tests following abnormal cystic fibrosis newborn screens. J Cyst Fibros 2011; 10: 460-465.
    • (2011) J Cyst Fibros , vol.10 , pp. 460-465
    • Nelson, M.R.1    Adamski, C.R.2    Tluczek, A.3
  • 5
    • 84860606583 scopus 로고    scopus 로고
    • California Cystic Fibrosis Newborn Screening Consortium. Impact of IVS8-(TG)m(T)n on IRT and sweat chloride levels in newborns identified by California CF newborn screening
    • Keiles S, Koepke R, Parad R, Kharrazi M,. California Cystic Fibrosis Newborn Screening Consortium. Impact of IVS8-(TG)m(T)n on IRT and sweat chloride levels in newborns identified by California CF newborn screening. J Cyst Fibros 2012; 11: 257-260.
    • (2012) J Cyst Fibros , vol.11 , pp. 257-260
    • Keiles, S.1    Koepke, R.2    Parad, R.3    Kharrazi, M.4
  • 9
    • 76549091391 scopus 로고    scopus 로고
    • Physiological measurements confirming the diagnosis of cystic fibrosis: The sweat test and measurements of transepithelial potential difference
    • Taylor CJ, Hardcastle J, Southern KW,. Physiological measurements confirming the diagnosis of cystic fibrosis: the sweat test and measurements of transepithelial potential difference. Paediatr Respir Rev 2009; 10: 220-226.
    • (2009) Paediatr Respir Rev , vol.10 , pp. 220-226
    • Taylor, C.J.1    Hardcastle, J.2    Southern, K.W.3
  • 10
    • 0034123427 scopus 로고    scopus 로고
    • Sweat testing following newborn screening for cystic fibrosis
    • Massie J, Gaskin K, Van Asperen P, Wilcken B,. Sweat testing following newborn screening for cystic fibrosis. Pediatr Pulmonol 2000; 29: 452-456.
    • (2000) Pediatr Pulmonol , vol.29 , pp. 452-456
    • Massie, J.1    Gaskin, K.2    Van Asperen, P.3    Wilcken, B.4
  • 11
    • 0031016388 scopus 로고    scopus 로고
    • The diagnosis of cystic fibrosis
    • Stern RC,. The diagnosis of cystic fibrosis. N Engl J Med 1997; 336: 487-491.
    • (1997) N Engl J Med , vol.336 , pp. 487-491
    • Stern, R.C.1
  • 12
    • 0031900652 scopus 로고    scopus 로고
    • The diagnosis of cystic fibrosis: A consensus statement
    • Rosenstein BJ, Cutting GR,. The diagnosis of cystic fibrosis: a consensus statement. J Pediatr 1998; 132: 589-595.
    • (1998) J Pediatr , vol.132 , pp. 589-595
    • Rosenstein, B.J.1    Cutting, G.R.2
  • 13
    • 0034084063 scopus 로고    scopus 로고
    • Protracted neonatal hypertrypsinogenaemia, normal SC, and cystic fibrosis
    • Castellani C, Tamanini A, Mastella G,. Protracted neonatal hypertrypsinogenaemia, normal SC, and cystic fibrosis. Arch Dis Child 2000; 82: 481-482.
    • (2000) Arch Dis Child , vol.82 , pp. 481-482
    • Castellani, C.1    Tamanini, A.2    Mastella, G.3
  • 14
    • 0034545223 scopus 로고    scopus 로고
    • Genotype analysis and phenotypic manifestations of children with intermediate SC test results
    • Desmarquest P, Feldmann D, Tamalat A, Boule M, Fauroux B, Tournier G, Clement A,. Genotype analysis and phenotypic manifestations of children with intermediate SC test results. Chest 2000; 118: 1591-1597.
    • (2000) Chest , vol.118 , pp. 1591-1597
    • Desmarquest, P.1    Feldmann, D.2    Tamalat, A.3    Boule, M.4    Fauroux, B.5    Tournier, G.6    Clement, A.7
  • 15
    • 84894231778 scopus 로고    scopus 로고
    • Possible eventual positive sweat chloride test results in children with CFTR-related metabolic syndrome (CRMS)
    • Williams S, Chin T, Randhawa I, Nussbaum E,. Possible eventual positive sweat chloride test results in children with CFTR-related metabolic syndrome (CRMS). Pediatr Pulmonol Suppl 2011; 34: 423.
    • (2011) Pediatr Pulmonol Suppl , vol.34 , pp. 423
    • Williams, S.1    Chin, T.2    Randhawa, I.3    Nussbaum, E.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.