An innovative strategy for personalised medicine in a CFSPID case that evolved with time

J. Twynam-Perkins; A. Fall; J. W. Lefferts; D. S. Urquhart

doi:10.1016/j.prrv.2023.06.001

An innovative strategy for personalised medicine in a CFSPID case that evolved with time

J. Twynam-Perkins, A. Fall, J. W. Lefferts, D. S. Urquhart^*

^*Corresponding author for this work

Research output: Contribution to journal › Review article › peer-review

Abstract

We present a challenging case that illustrates how the clinical manifestations in children with CFTR mutations of uncertain significance may change over time. This case highlights the evolution of confirming a diagnosis of CF and emphasises the importance of regular review and monitoring of this patient cohort.

Original language	English
Pages (from-to)	23-26
Number of pages	4
Journal	Paediatric Respiratory Reviews
Volume	47
DOIs	https://doi.org/10.1016/j.prrv.2023.06.001
Publication status	Published - Sept 2023

Keywords

CFTR modulators
N = 1 clinical trials
Organoids

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10.1016/j.prrv.2023.06.001

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title = "An innovative strategy for personalised medicine in a CFSPID case that evolved with time",

abstract = "We present a challenging case that illustrates how the clinical manifestations in children with CFTR mutations of uncertain significance may change over time. This case highlights the evolution of confirming a diagnosis of CF and emphasises the importance of regular review and monitoring of this patient cohort.",

keywords = "CFTR modulators, N = 1 clinical trials, Organoids",

author = "J. Twynam-Perkins and A. Fall and Lefferts, {J. W.} and Urquhart, {D. S.}",

note = "Publisher Copyright: {\textcopyright} 2023 Elsevier Ltd",

year = "2023",

month = sep,

doi = "10.1016/j.prrv.2023.06.001",

language = "English",

volume = "47",

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AU - Twynam-Perkins, J.

AU - Fall, A.

AU - Lefferts, J. W.

AU - Urquhart, D. S.

PY - 2023/9

Y1 - 2023/9

N2 - We present a challenging case that illustrates how the clinical manifestations in children with CFTR mutations of uncertain significance may change over time. This case highlights the evolution of confirming a diagnosis of CF and emphasises the importance of regular review and monitoring of this patient cohort.

AB - We present a challenging case that illustrates how the clinical manifestations in children with CFTR mutations of uncertain significance may change over time. This case highlights the evolution of confirming a diagnosis of CF and emphasises the importance of regular review and monitoring of this patient cohort.

KW - CFTR modulators

KW - N = 1 clinical trials

KW - Organoids

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DO - 10.1016/j.prrv.2023.06.001

M3 - Review article

C2 - 37407313

AN - SCOPUS:85164303940

SN - 1526-0542

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SP - 23

EP - 26

JO - Paediatric Respiratory Reviews

JF - Paediatric Respiratory Reviews

ER -

An innovative strategy for personalised medicine in a CFSPID case that evolved with time

Abstract

Keywords

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