A survey of the prevalence, management and outcome of infants with an inconclusive diagnosis following newborn bloodspot screening for cystic fibrosis (CRMS/CFSPID) in six Italian centres
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Title
A survey of the prevalence, management and outcome of infants with an inconclusive diagnosis following newborn bloodspot screening for cystic fibrosis (CRMS/CFSPID) in six Italian centres
Authors
Keywords
-
Journal
Journal of Cystic Fibrosis
Volume -, Issue -, Pages -
Publisher
Elsevier BV
Online
2021-04-19
DOI
10.1016/j.jcf.2021.03.015
References
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Related references
Note: Only part of the references are listed.- Phenotype of children with inconclusive cystic fibrosis diagnosis after newborn screening
- (2020) Anne Munck et al. PEDIATRIC PULMONOLOGY
- Trend of sweat chloride values in a cohort of patients carrying CFTR mutations of varying clinical consequence: Is there a risk of increasing sweat chloride over time?
- (2020) Vito Terlizzi et al. PEDIATRIC PULMONOLOGY
- Clinical and Genotypical Features of False-Negative Patients in 26 Years of Cystic Fibrosis Neonatal Screening in Tuscany, Italy
- (2020) Giovanni Taccetti et al. Diagnostics
- Cystic Fibrosis-Screening Positive Inconclusive Diagnosis: Newborn Screening and Long-Term Follow-Up Permits to Early Identify Patients with CFTR-Related Disorders
- (2020) Alice Castaldo et al. Diagnostics
- CRMS/CFSPID Subjects Carrying D1152H CFTR Variant: Can the Second Variant Be a Predictor of Disease Development?
- (2020) Vito Terlizzi et al. Diagnostics
- Updated guidance on the management of children with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome/cystic fibrosis screen positive, inconclusive diagnosis (CRMS/CFSPID)
- (2020) Jürg Barben et al. Journal of Cystic Fibrosis
- Cystic fibrosis screen positive inconclusive diagnosis (CFSPID): Experience in Tuscany, Italy
- (2019) Vito Terlizzi et al. Journal of Cystic Fibrosis
- Should isolated Pseudo‐Bartter syndrome be considered a CFTR‐related disorder of infancy?
- (2019) Piercarlo Poli et al. PEDIATRIC PULMONOLOGY
- The future of cystic fibrosis care: a global perspective
- (2019) Scott C Bell et al. Lancet Respiratory Medicine
- Cystic Fibrosis Transmembrane Conductance Regulator-Related Metabolic Syndrome and Cystic Fibrosis Screen Positive, Inconclusive Diagnosis
- (2017) Clement L. Ren et al. JOURNAL OF PEDIATRICS
- ESPEN-ESPGHAN-ECFS guidelines on nutrition care for infants, children, and adults with cystic fibrosis
- (2016) Dominique Turck et al. CLINICAL NUTRITION
- The Impact on Genetic Testing of Mutational Patterns of CFTR Gene in Different Clinical Macrocategories of Cystic Fibrosis
- (2016) Marco Lucarelli et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): A new designation and management recommendations for infants with an inconclusive diagnosis following newborn screening
- (2015) A. Munck et al. Journal of Cystic Fibrosis
- Clinical expression of patients with the D1152H CFTR mutation
- (2015) Vito Terlizzi et al. Journal of Cystic Fibrosis
- Long-Term Outcomes of Children with Intermediate Sweat Chloride Values in Infancy
- (2015) Tyler Groves et al. JOURNAL OF PEDIATRICS
- Unknown
- (2015) Marco Lucarelli et al. MOLECULAR MEDICINE
- Inconclusive Diagnosis of Cystic Fibrosis After Newborn Screening
- (2015) C. Y. Ooi et al. PEDIATRICS
- Definitions of Pediatric Pancreatitis and Survey of Present Clinical Practices
- (2012) Veronique D. Morinville et al. JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION
- Recommendations for the classification of diseases as CFTR-related disorders
- (2011) C. Bombieri et al. Journal of Cystic Fibrosis
- Cystic Fibrosis Pulmonary Guidelines
- (2009) Patrick A. Flume et al. AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
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