Clinical outcome of individuals carrying 5T;TG12 in trans with CFTR variants with varying clinical consequences-Reference-Cited by-同舟云学术

Clinical outcome of individuals carrying 5T;TG12 in trans with CFTR variants with varying clinical consequences

Published:2023-01-27 Issue:4 Volume:58 Page:1253-1255
ISSN:8755-6863
Container-title:Pediatric Pulmonology
language:en
Short-container-title:Pediatric Pulmonology

Author:

Tosco Antonella¹^ORCID,Carnovale Vincenzo²,Claut Laura³,Fabrizzi Benedetta⁴,Majo Fabio⁵^ORCID,Castellani Carlo⁶,Sepe Angela¹,Castaldo Giuseppe⁷⁸,Terlizzi Vito⁹^ORCID

Affiliation:

1. Paediatric Unit, Department of Translational Medical Sciences, Cystic Fibrosis Regional Reference Center University of Naples Federico II Naples Italy

2. Adult Unit, Department of Translational Medical Science, Cystic Fibrosis Center University of Naples Federico II Naples Italy

3. Department of Pathophysiology and Transplantation, Cystic Fibrosis Regional Reference Center Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico University of Milan Milan Italy

4. Mother ‐ Child Department, Cystic Fibrosis Regional Reference Center United Hospitals Ancona Italy

5. Cystic Fibrosis Centre Bambino Gesù Children's Hospital, IRCCS Rome Italy

6. IRCCS Istituto Giannina Gaslini Genova Italy

7. Department of Molecular Medicine and Medical Biotechnology University of Naples Naples Italy

8. CEINGE‐Advanced Biotechnology Naples Italy

9. Department of Paediatric Medicine, Meyer Children's Hospital IRCCS Cystic Fibrosis Regional Reference Center Florence Italy

Publisher

Wiley

Subject

Pulmonary and Respiratory Medicine,Pediatrics, Perinatology and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ppul.26323

Reference6 articles.

1. 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

2. 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?

3. Cystic Fibrosis-Screening Positive Inconclusive Diagnosis: Newborn Screening and Long-Term Follow-Up Permits to Early Identify Patients with CFTR-Related Disorders

4. Clinical outcomes of a large cohort of individuals with the F508del/5T;TG12 CFTR genotype;Tosco A;J Cyst Fibros,2022

5. Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation

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1. Compound heterozygous CFTR variants (Q1352H and 5T; TG13) in a Chinese patient with cystic fibrosis;Diagnostic Pathology;2024-08-06

2. Biochemical and genetic tools to predict the progression to Cystic Fibrosis in CRMS/CFSPID subjects: A systematic review;Paediatric Respiratory Reviews;2024-01

3. Clinical Consequences and Functional Impact of the Rare S737F CFTR Variant and Its Responsiveness to CFTR Modulators;International Journal of Molecular Sciences;2023-03-31