User profiles for I. Sermet-Gaudelus

sermet-gaudelus I or Sermet I

INSERM U 1151; Institut Necker Enfants Malades; Université Paris Sorbonne; Hôpital …
Verified email at aphp.fr
Cited by 15942

Ataluren for the treatment of nonsense-mutation cystic fibrosis: a randomised, double-blind, placebo-controlled phase 3 trial

…, FJ Accurso, I Sermet-Gaudelus… - The Lancet …, 2014 - thelancet.com
Background Ataluren was developed to restore functional protein production in genetic disorders
caused by nonsense mutations, which are the cause of cystic fibrosis in 10% of patients…

Neuroimaging manifestations in children with SARS-CoV-2 infection: a multinational, multicentre collaborative study

…, D Seidenwurm, I Sermet-Gaudelus… - The Lancet Child & …, 2021 - thelancet.com
Background The CNS manifestations of COVID-19 in children have primarily been described
in case reports, which limit the ability to appreciate the full spectrum of the disease in …

[HTML][HTML] A CFTR Potentiator in Patients with Cystic Fibrosis and the G551D Mutation

…, R Moss, F Ratjen, I Sermet-Gaudelus… - … England Journal of …, 2011 - Mass Medical Soc
Background Increasing the activity of defective cystic fibrosis transmembrane conductance
regulator (CFTR) protein is a potential treatment for cystic fibrosis. Methods We conducted a …

[HTML][HTML] Diagnosis of cystic fibrosis: consensus guidelines from the cystic fibrosis foundation

…, M Rock, M Rosenfeld, I Sermet-Gaudelus… - The Journal of …, 2017 - Elsevier
Objective Cystic fibrosis (CF), caused by mutations in the CF transmembrane conductance
regulator (CFTR) gene, continues to present diagnostic challenges. Newborn screening and …

[HTML][HTML] European cystic fibrosis society standards of care: best practice guidelines

…, F Ratjen, SJ Schwarzenberg, I Sermet-Gaudelus… - Journal of cystic …, 2014 - Elsevier
Specialised CF care has led to a dramatic improvement in survival in CF: in the last four
decades, well above what was seen in the general population over the same period. With the …

[HTML][HTML] ECFS best practice guidelines: the 2018 revision

…, A Munck, F Ratjen, I Sermet-Gaudelus… - Journal of cystic …, 2018 - Elsevier
Developments in managing CF continue to drive dramatic improvements in survival. As
newborn screening rolls-out across Europe, CF centres are increasingly caring for cohorts of …

[HTML][HTML] Simple pediatric nutritional risk score to identify children at risk of malnutrition

I Sermet-Gaudelus, AS Poisson-Salomon… - The American journal of …, 2000 - Elsevier
Background: Although hospitalized children are at risk of malnutrition, routine screening of
nutritional status has been hindered by lack of a validated nutritional assessment tool. …

[HTML][HTML] European best practice guidelines for cystic fibrosis neonatal screening

…, A Mehta, A Munck, R Pollitt, I Sermet-Gaudelus… - Journal of Cystic …, 2009 - Elsevier
There is wide agreement on the benefits of NBS for CF in terms of lowered disease severity,
decreased burden of care, and reduced costs. Risks are mainly associated with disclosure …

US Cystic Fibrosis Foundation and European Cystic Fibrosis Society consensus recommendations for the management of non-tuberculous mycobacteria in …

…, K Koetz, KA Sabadosa, I Sermet-Gaudelus… - Thorax, 2016 - thorax.bmj.com
Non-tuberculous mycobacteria (NTM) are ubiquitous environmental organisms that can cause
chronic pulmonary infection, particularly in individuals with pre-existing inflammatory lung …

Ataluren (PTC124) induces cystic fibrosis transmembrane conductance regulator protein expression and activity in children with nonsense mutation cystic fibrosis

I Sermet-Gaudelus, KD Boeck, GJ Casimir… - American journal of …, 2010 - atsjournals.org
Rationale: Nonsense (premature stop codon) mutations in mRNA for the cystic fibrosis
transmembrane conductance regulator (CFTR) cause cystic fibrosis (CF) in approximately 10% of …