Oesophageal atresia

…, U Krishnan, SWJ Terheggen-Lagro… - Nature Reviews …, 2019 - nature.com
Oesophageal atresia (EA) is a congenital abnormality of the oesophagus that is caused by
incomplete embryonic compartmentalization of the foregut. EA commonly occurs with a …

Pediatric long‐COVID: An overlooked phenomenon?

…, S Hashimoto, SWJ TerheggenLagro - Pediatric …, 2021 - Wiley Online Library
Background Long‐COVID is a well‐documented multisystem disease in adults. Far less is
known about long‐term sequelae of COVID in children. Here, we report on the occurrence of …

Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling

…, S Volpi, O Sacco, SWJ Terheggen-Lagro… - Journal of Allergy and …, 2017 - Elsevier
Background Gain-of-function mutations in transmembrane protein 173 (TMEM173) encoding
stimulator of interferon genes (STING) underlie a recently described type I interferonopathy …

[HTML][HTML] Aminoacyl-tRNA synthetase deficiencies in search of common themes

…, KLI van Gassen, SWJ Terheggen-Lagro… - Genetics in …, 2019 - nature.com
Purpose Pathogenic variations in genes encoding aminoacyl-tRNA synthetases (ARSs) are
increasingly associated with human disease. Clinical features of autosomal recessive ARS …

Optimal Complement-Mediated Phagocytosis of Pseudomonas aeruginosa by Monocytes Is Cystic Fibrosis Transmembrane Conductance Regulator–Dependent

…, CK Van der Ent, SWJ Terheggen-Lagro… - American journal of …, 2013 - atsjournals.org
Cystic fibrosis (CF) is caused by mutations of the cystic fibrosis transmembrane conductance
regulator (CFTR) gene, and is characterized by chronic pulmonary infections. The …

[HTML][HTML] Treatment of ARS deficiencies with specific amino acids

…, H Rehmann, SWJ Terheggen-Lagro… - Genetics in …, 2021 - nature.com
Purpose Recessive cytosolic aminoacyl-tRNA synthetase (ARS) deficiencies are severe
multiorgan diseases, with limited treatment options. By loading transfer RNAs (tRNAs) with their …

Neurocognitive, psychosocial, and quality of life outcomes after multisystem inflammatory syndrome in children admitted to the PICU

…, EP Buddingh, SWJ Terheggen-Lagro… - Pediatric critical care …, 2023 - journals.lww.com
OBJECTIVES: To investigate neurocognitive, psychosocial, and quality of life (QoL) outcomes
in children with Multisystem Inflammatory Syndrome in Children (MIS-C) seen 3–6 months …

Diagnostic value of serological tests against Pseudomonas aeruginosa in a large cystic fibrosis population

…, CK van der Ent, MG Slieker, SWJ Terheggen-Lagro… - Thorax, 2006 - thorax.bmj.com
Background: Serological methods to monitor Pseudomonas aeruginosa colonisation in
patients with cystic fibrosis (CF) are advocated but the diagnostic value of a commercially …

A CT scan score for the assessment of lung disease in children with common variable immunodeficiency disorders

…, JM van Montfrans, SWJ Terheggen-Lagro… - Chest, 2010 - Elsevier
… van Montfrans MD, PhD , Suzanne WJ Terheggen-Lagro MD, PhD , Frederik J. Beek MD, …
Dr Terheggen-Lagro: contributed to conception and design of the study, revising the article …

[HTML][HTML] Safety of a new extensively hydrolysed formula in children with cow's milk protein allergy: a double blind crossover study

SWJ Terheggen-Lagro, IMSL Khouw, A Schaafsma… - BMC pediatrics, 2002 - Springer
Background Formulae for infants with cow's milk protein allergy (CMA) should be based on
extensively hydrolysed protein. 'Extensively' however is not strictly defined. Differences in …