Found: 24
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Cystic fibrosis and CFTR-related disorder with electrolyte imbalance at diagnosis: clinical features and outcome in an Italian cohort.
- Published in:
- European Journal of Pediatrics, 2023, v. 182, n. 12, p. 5275, doi. 10.1007/s00431-023-05193-9
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- Publication type:
- Article
Clinical expression of cystic fibrosis in a large cohort of Italian siblings.
- Published in:
- 2018
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- Publication type:
- journal article
Elexacaftor–Tezacaftor–Ivacaftor Therapy for Cystic Fibrosis Patients with The F508del/Unknown Genotype.
- Published in:
- Antibiotics (2079-6382), 2021, v. 10, n. 7, p. 828, doi. 10.3390/antibiotics10070828
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- Publication type:
- Article
Reduced absorption and enhanced synthesis of cholesterol in patients with cystic fibrosis: a preliminary study of plasma sterols.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2016, v. 54, n. 9, p. 1461, doi. 10.1515/cclm-2015-1151
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- Publication type:
- Article
Effectivenesss of ivacaftor in severe cystic fibrosis patients and non‐G551D gating mutations.
- Published in:
- Pediatric Pulmonology, 2019, v. 54, n. 9, p. 1398, doi. 10.1002/ppul.24424
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- Publication type:
- Article
Patients with cystic fibrosis having a residual function mutation: Data from the Italian registry.
- Published in:
- Pediatric Pulmonology, 2019, v. 54, n. 2, p. 150, doi. 10.1002/ppul.24215
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- Publication type:
- Article
Update of literature from cystic fibrosis registries 2012-2015. Part 6: Epidemiology, nutrition and complications.
- Published in:
- Pediatric Pulmonology, 2017, v. 52, n. 3, p. 390, doi. 10.1002/ppul.23611
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- Publication type:
- Article
An overview of international literature from cystic fibrosis registries. Part 5: Update 2012-2015 on lung disease.
- Published in:
- Pediatric Pulmonology, 2016, v. 51, n. 11, p. 1251, doi. 10.1002/ppul.23473
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- Publication type:
- Article
Cystic Fibrosis Database (CFDB): A new web-based tool for cystic fibrosis specialists.
- Published in:
- Pediatric Pulmonology, 2014, v. 49, n. 9, p. 938, doi. 10.1002/ppul.22954
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- Publication type:
- Article
Effects of salmeterol on arterial oxyhemoglobin saturations in patients with cystic fibrosis.
- Published in:
- Pediatric Pulmonology, 2002, v. 34, n. 1, p. 11, doi. 10.1002/ppul.10117
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- Publication type:
- Article
Effectiveness of Elexacaftor/Tezacaftor/Ivacaftor Therapy in Three Subjects with the Cystic Fibrosis Genotype Phe508del/Unknown and Advanced Lung Disease.
- Published in:
- Genes, 2021, v. 12, n. 8, p. 1178, doi. 10.3390/genes12081178
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- Publication type:
- Article
Phenotypic Heterogeneity in a Cystic Fibrosis Family and the 'Pseudomonas Dilemma'.
- Published in:
- 2015
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- Publication type:
- Journal Article
Elexacaftor/tezacaftor/ivacaftor as rescue therapy in a patient with the cystic fibrosis genotype F508DEL/G1244E.
- Published in:
- 2021
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- Publication type:
- Case Study
The Diagnosis of Cystic Fibrosis in Adult Age. Data from the Italian Registry.
- Published in:
- Diagnostics (2075-4418), 2021, v. 11, n. 2, p. 321, doi. 10.3390/diagnostics11020321
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- Publication type:
- Article
Combining Clinical Trial and Patient Registry Data in Cystic Fibrosis: Who Should Be Compared?
- Published in:
- 2017
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- Publication type:
- journal article
Mild Cystic Fibrosis. A Case Report.
- Published in:
- JOP Journal of the Pancreas, 2015, v. 16, n. 3, p. 316
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- Publication type:
- Article
Elexacaftor/tezacaftor/ivacaftor in children aged 6–11 years with cystic fibrosis, at least one F508DEL allele, and advanced lung disease: A 24‐week observational study.
- Published in:
- Pediatric Pulmonology, 2022, v. 57, n. 9, p. 2253, doi. 10.1002/ppul.25980
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- Publication type:
- Article
Disease characterization of people with cystic fibrosis and a minimal function mutation: Data from the Italian registry.
- Published in:
- Pediatric Pulmonology, 2021, v. 56, n. 10, p. 3232, doi. 10.1002/ppul.25616
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- Publication type:
- Article
Cystic fibrosis with non‐G551D gating mutations in Italy: Epidemiology and clinical characteristics.
- Published in:
- Pediatric Pulmonology, 2021, v. 56, n. 2, p. 442, doi. 10.1002/ppul.25179
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- Publication type:
- Article
A noval nonsense mutation (Y849X) in the CFTR gene of a CF patient from southern Italy.
- Published in:
- Human Mutation, 1999, v. 14, n. 3, p. 272, doi. 10.1002/(SICI)1098-1004(1999)14:3<272::AID-HUMU18>3.0.CO;2-B
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- Publication type:
- Article
Analysis of cystic fibrosis gene mutations in children with cystic fibrosis and in 964 infertile couples within the region of Basilicata, Italy: a research study.
- Published in:
- 2014
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- Publication type:
- journal article
Perinatal outcomes in women with cystic fibrosis: Data from the Italian Cystic Fibrosis Registry.
- Published in:
- Acta Obstetricia et Gynecologica Scandinavica, 2021, v. 100, n. 8, p. 1439, doi. 10.1111/aogs.14190
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- Publication type:
- Article
Elexacaftor/Tezacaftor/Ivacaftor in Patients with Cystic Fibrosis Homozygous for the F508del Mutation and Advanced Lung Disease: A 48-Week Observational Study.
- Published in:
- Journal of Clinical Medicine, 2022, v. 11, n. 4, p. N.PAG, doi. 10.3390/jcm11041021
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- Publication type:
- Article
p.Leu636Pro mutation is associated with cystic fibrosis transmembrane conductance regulator-related disorders (congenital bilateral absence of vas deferens).
- Published in:
- 2015
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- Publication type:
- Other