(Q24657948)

2

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Terry B White

3

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Frank J Accurso

4

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Carlo Castellani

5

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Garry R Cutting

6

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Peter R Durie

7

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Vicky A Legrys

8

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John Massie

9

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Richard B Parad

10

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Michael J Rock

11

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Preston W Campbell

The Journal of Pediatrics

12

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language of work or name

English

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publication date

August 2008

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published in

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volume

153

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page(s)

S4-S14

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issue

2

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cites work

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7 April 2017

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The limitations of sweat electrolyte reference intervals for the diagnosis of cystic fibrosis: a systematic review

7 April 2017

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Pancreatic phenotype in infants with cystic fibrosis identified by mutation screening

28 September 2017

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Fecal elastase-1: utility in pancreatic function in cystic fibrosis

28 September 2017

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Cystic fibrosis: terminology and diagnostic algorithms

28 September 2017

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Manifestations of cystic fibrosis diagnosed in adulthood

28 September 2017

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Complications associated with symptomatic diagnosis in infants with cystic fibrosis

28 September 2017

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Review of outcomes of neonatal screening for cystic fibrosis versus non-screening in Europe

28 September 2017

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Overview of published evidence on outcomes with early diagnosis from large US observational studies

28 September 2017

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Sweat-testing in preterm and full-term infants less than 6 weeks of age.

28 September 2017

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Diagnosis of cystic fibrosis after newborn screening: the Australasian experience--twenty years and five million babies later: a consensus statement from the Australasian Paediatric Respiratory Group

28 September 2017

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28 September 2017

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Sweat testing in newborns positive to neonatal screening for cystic fibrosis

28 September 2017

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28 September 2017

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Standardized procedure for measurement of nasal potential difference: an outcome measure in multicenter cystic fibrosis clinical trials

28 September 2017

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Faecal elastase 1 levels in premature and full term infants

28 September 2017

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Infertility in men with cystic fibrosis

28 September 2017

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Newborn screening for cystic fibrosis in Victoria: 10 years' experience (1989-1998).

28 September 2017

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Genotype-phenotype relationships in cystic fibrosis

28 September 2017

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Sweat testing following newborn screening for cystic fibrosis

28 September 2017

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28 September 2017

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Neonatal screening for cystic fibrosis: a comparison of two strategies for case detection in 1.2 million babies

28 September 2017

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In vivo nasal potential difference: techniques and protocols for assessing efficacy of gene transfer in cystic fibrosis

28 September 2017

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28 September 2017

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28 September 2017

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28 September 2017

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Phenotypic and genetic characterization of patients with features of "nonclassic" forms of cystic fibrosis

28 September 2017

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30 May 2018

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Improved detection of CFTR mutations in Southern California Hispanic CF patients

30 May 2018

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30 May 2018

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30 May 2018

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30 May 2018

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28 November 2018

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Cystic fibrosis diagnosed after 2 months of age leads to worse outcomes and requires more therapy.

28 November 2018

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The evaluation of a novel conductometric device for the diagnosis of cystic fibrosis.

28 November 2018

1 reference

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Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials

28 November 2018

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Diagnostic dilemmas resulting from the immunoreactive trypsinogen/DNA cystic fibrosis newborn screening algorithm.

28 November 2018

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Newborn screening for cystic fibrosis in Wisconsin: nine-year experience with routine trypsinogen/DNA testing

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810958

Sweat testing infants detected by cystic fibrosis newborn screening

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810958

Evidence on improved outcomes with early diagnosis of cystic fibrosis through neonatal screening: enough is enough!

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810958

Conductivity determined by a new sweat analyzer compared with chloride concentrations for the diagnosis of cystic fibrosis.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810958

Testing diagnostic tests: why size matters.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810958

Clinical manifestations of cystic fibrosis among patients with diagnosis in adulthood.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810958

Identification of novel and rare mutations in California Hispanic and African American cystic fibrosis patients.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810958

Population-based newborn screening for genetic disorders when multiple mutation DNA testing is incorporated: a cystic fibrosis newborn screening model demonstrating increased sensitivity but more carrier detections.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810958

Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis

28 November 2018

1 reference

12 December 2020

Normal sweat chloride values do not exclude the diagnosis of cystic fibrosis

1 reference

12 December 2020

The cystic fibrosis transmembrane conductance regulator gene and ion channel function in patients with idiopathic pancreatitis

1 reference

12 December 2020

Two-tiered immunoreactive trypsinogen-based newborn screening for cystic fibrosis in Colorado: screening efficacy and diagnostic outcomes

1 reference

12 December 2020

Sweat sodium and chloride concentrations--essential criteria for the diagnosis of cystic fibrosis in adults

1 reference

12 December 2020

Negative sweat test in hypertrypsinaemic infants with cystic fibrosis carrying rare CFTR mutations

1 reference

12 December 2020

Nutritional benefits of neonatal screening for cystic fibrosis. Wisconsin Cystic Fibrosis Neonatal Screening Study Group

1 reference

12 December 2020

Early pulmonary manifestation of cystic fibrosis in children with the DeltaF508/R117H-7T genotype

1 reference

12 December 2020

Pitfall in the use of genotype analysis as the sole diagnostic criterion for cystic fibrosis

1 reference

12 December 2020

Newborn screening for cystic fibrosis

1 reference

12 December 2020

Genetic modifiers of lung disease in cystic fibrosis

1 reference

12 December 2020

A mutation in CFTR produces different phenotypes depending on chromosomal background

1 reference

12 December 2020

Uncertainty in the diagnosis of cystic fibrosis: possible role of in vivo nasal potential difference measurements

1 reference

12 December 2020

Updated assessment of cystic fibrosis mutation frequencies in non-Hispanic Caucasians

1 reference

12 December 2020

Pathophysiology of the pancreas in cystic fibrosis

1 reference

12 December 2020

Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens

1 reference

12 December 2020

The meaning of "early" diagnosis in a new era of cystic fibrosis care

1 reference

12 December 2020

A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations

1 reference

12 December 2020

Genetic and physiologic correlates of longitudinal immunoreactive trypsinogen decline in infants with cystic fibrosis identified through newborn screening

1 reference

12 December 2020

Mutation in the gene responsible for cystic fibrosis and predisposition to chronic rhinosinusitis in the general population

1 reference

12 December 2020

Immunoreactive trypsin/DNA newborn screening for cystic fibrosis: should the R117H variant be included in CFTR mutation panels?

1 reference

12 December 2020

Prediction of Mortality in Patients with Cystic Fibrosis

1 reference

12 December 2020

Sweat chloride concentrations in infants homozygous or heterozygous for F508 cystic fibrosis

1 reference

12 December 2020

Intron-8 polythymidine sequence in Australasian individuals with CF mutations R117H and R117C

1 reference

12 December 2020

Assessing quality assurance for sweat chloride testing

1 reference

12 December 2020

Mutations of the cystic fibrosis gene and intermediate sweat chloride levels in children

1 reference

12 December 2020

Pancreatic function in infants identified as having cystic fibrosis in a neonatal screening program

1 reference

12 December 2020

10.1016/J.JPEDS.2008.05.005

Identifiers

DOI

1 reference

409418

409418

1 reference

1 reference

1 reference