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Improvement in Non-Pulmonary CFTR-Related Symptoms in a Patient With p.Phe508del/p.Arg117His (7T) Cystic Fibrosis Treated with Ivacaftor

2021-11-28

Abstract excerpt

<h4>Introduction: </h4> Diagnosis and management of CRMS/CFSPID and cystic fibrosis (CF) with mild phenotypes remains challenging, and this extends to expanding practice with the use of CFTR modulators. Case: We describe a case of an 18-year-old man with p.F508del/p.Arg117His(7T) initially presenting with CRMS/CFSPID. He went on to be diagnosed with pancreatic sufficient CF with minimal lung disease and no bronchi...

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Literature Corpus work
b8279108-1b4d-5928-acfc-30edad75bca5
DOI
10.22541/au.163811198.89091254/v1
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Improvement in Non-Pulmonary CFTR-Related Symptoms in a Patient With p.Phe508del/p.Arg117His (7T) Cystic Fibrosis Treated with IvacaftorDOI 10.22541/au.163811198.89091254/v1
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