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Rare Diseases

Last data update: Mar 25, 2023. (Total: 58925 Documents since 2012)
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Query Trace: Cystic Fibrosis[original query]>>Original Studies[Product Type]
Cystic fibrosis prevalence in the United States and participation in the Cystic Fibrosis Foundation Patient Registry in 2020.
Elizabeth A Cromwell et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2023
Sweat conductivity for diagnosing cystic fibrosis after positive newborn screening: prospective, diagnostic test accuracy study.
Renata Marcos Bedran et al. Archives of disease in childhood 2023
Early life growth trajectories in cystic fibrosis are associated with lung function at age six.
Kevin J Psoter et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2023
Incidence of transaminitis in adults with cystic fibrosis taking elexacaftor/tezacaftor/ivacaftor.
Marci Wood et al. Journal of the American Pharmacists Association : JAPhA 2023
Cystic Fibrosis: A Descriptive Analysis of Deaths in a Two-Decade Period in Brazil According to Age, Race, and Sex.
Luan Victor Frota de Azevedo et al. Diagnostics (Basel, Switzerland) 2023 13(4)
A Multicentre Italian Study on the Psychological Impact of an Inconclusive Cystic Fibrosis Diagnosis after Positive Neonatal Screening.
Antonella Tosco et al. Children (Basel, Switzerland) 2023 10(2)
CFTR-Related Metabolic Syndrome: Genetic Variants Increasing Pancreatitis Risk in the Pediatric Puerto Rican Population.
Jesús M Meléndez-Montañez et al. Children (Basel, Switzerland) 2023 10(2)
External validity of machine learning-based prognostic scores for cystic fibrosis: A retrospective study using the UK and Canadian registries.
Yuchao Qin et al. PLOS digital health 2023 2(1) e0000179
Lower Expression of CFTR Is Associated with Higher Mortality in a Meta-Analysis of Individuals with Colorectal Cancer.
Patricia Scott et al. Cancers 2023 15(3)
Patient care in cystic fibrosis centers: a real-world analysis in Brazil.
Elenara da Fonseca Andrade Procianoy et al. Jornal brasileiro de pneumologia : publicacao oficial da Sociedade Brasileira de Pneumologia e Tisilogia 2023 49(1) e20220306
The Use of DXA for Early Detection of Pediatric Cystic Fibrosis related Bone Disease.
Chadwick Christina et al. Pediatric pulmonology 2023
Genetic and Serum Screening for Alpha-1-Antitrypsin Deficiency in Adult Patients with Cystic Fibrosis: A Single-Center Experience.
Amati Francesco et al. Biomedicines 2022 10(12)
Evaluation of specificity and sensitivity of IRT/IRT protocol in the cystic fibrosis newborn screening program: 6-year experience of three tertiary centers.
Ramasli Gursoy Tugba et al. European journal of pediatrics 2022
High rates of anxiety detected in mothers of children with inconclusive cystic fibrosis screening results.
Ginsburg Daniella K et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2022
Variation in Cystic Fibrosis Newborn Screening Algorithms in the United States.
Rehani Maryann R et al. Pediatric pulmonology 2022
The inequity of targeted cystic fibrosis reproductive carrier screening tests in Australia.
Shum Bennett Ov et al. Prenatal diagnosis 2022
Aminoglycoside induced ototoxicity risk in the cystic fibrosis population: The utility of large-scale screening.
Lopes Jaime et al. Pediatric pulmonology 2022
Clinical and Genetic Characterisation of Cystic Fibrosis Patients in Latvia: A Twenty-Five-Year Experience.
Auzenbaha Madara et al. Diagnostics (Basel, Switzerland) 2022 12(11)
German Newborn Screening for Cystic Fibrosis - Parental perspectives and suggestions for improvements.
Gapp Simon et al. Pediatric pulmonology 2022
Maternal carrier screening with single-gene NIPS provides accurate fetal risk assessments for recessive conditions.
Hoskovec Jennifer et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022
REFINEMENT OF NEWBORN SCREENING FOR CYSTIC FIBROSIS WITH NEXT GENERATION SEQUENCING.
Rock Michael J et al. Pediatric pulmonology 2022
Missed Cystic Fibrosis Newborn Screening Cases due to Immunoreactive Trypsinogen Levels below Program Cutoffs: A National Survey of Risk Factors.
Kharrazi Martin et al. International journal of neonatal screening 2022 8(4)
Perceptions of airway gene therapy for cystic fibrosis.
Donnelley Martin et al. Expert opinion on biological therapy 2022
The importance of aeroallergen sensitivity in children with cystic fibrosis.
Atay Özge et al. Allergologia et immunopathologia 2022 50(S Pt 3) 1-9
Survival of people with cystic fibrosis in Australia.
Ruseckaite Rasa et al. Scientific reports 2022 12(1) 19748
Immunoreactive trypsinogen in healthy newborns and infants with cystic fibrosis.
Fingerhut Ralph et al. Archives of disease in childhood. Fetal and neonatal edition 2022
Vitamin Status in Children with Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutation.
Wysocka-Wojakiewicz Paulina et al. Nutrients 2022 14(21)
Contemporary cystic fibrosis incidence rates in Canada and the United States.
Stephenson Anne L et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2022
Parental Preferences about Policy Options Regarding Disclosure of Incidental Genetic Findings in Newborn Screening: Using Videos and the Internet to Educate and Obtain Input.
Farrell Michael H et al. International journal of neonatal screening 2022 8(4)
Missed Cystic Fibrosis Newborn Screening Cases due to Immunoreactive Trypsinogen Levels below Program Cutoffs: A National Survey of Risk Factors
M Kharrazi et al, IJNS, October 27, 2022
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