CRMS/CFSPID Subjects Carrying D1152H CFTR Variant: Can the Second Variant Be a Predictor of Disease Development?

Lignende værker

• Refining CFTR-Related Metabolic Syndrome (CRMS)/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID) Diagnosis: Impact of CFTR2 Variant Classifications
  af: MacKenzie Wyatt, et al.
  Udgivet: (2025-07-01)
• The Promising Role of Intestinal Organoids in the Diagnostic Work-Up of Cystic Fibrosis Screen Positive Inconclusive Diagnosis/CFTR-Related Metabolic Syndrome (CFSPID/CRMS)
  af: Noelia Rodriguez Mier, et al.
  Udgivet: (2025-07-01)
• Extensive CFTR Gene Analysis Revealed a Higher Occurrence of Cystic Fibrosis Transmembrane Regulator-Related Disorders (CFTR-RD) among CF Carriers
  af: Esposito, Maria Valeria, et al.
  Udgivet: (2020)
• Ex vivo model predicted in vivo efficacy of CFTR modulator therapy in a child with rare genotype
  af: Terlizzi, Vito, et al.
  Udgivet: (2021)
• Restoration of CFTR function in patients with cystic fibrosis carrying the F508del-CFTR mutation
  af: Stefano, Daniela De, et al.
  Udgivet: (2014)