Detalhe da pesquisa
1.
Breaking the chains of lipoprotein lipase deficiency: A pediatric perspective on the efficacy and safety of Volanesorsen.
Mol Genet Metab
; 142(1): 108347, 2024 May.
Artigo
Inglês
| MEDLINE | ID: mdl-38401382
2.
Oral sialic acid supplementation in NANS-CDG: Results of a single center, open-label, observational pilot study.
J Inherit Metab Dis
; 46(5): 956-971, 2023 09.
Artigo
Inglês
| MEDLINE | ID: mdl-37340906
3.
Burden of respiratory syncytial virus bronchiolitis on the Dutch pediatric intensive care units.
Eur J Pediatr
; 180(10): 3141-3149, 2021 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-33891158
4.
Navigating the outcome maze: a scoping review of outcomes and instruments in clinical trials in genetic neurodevelopmental disorders and intellectual disability.
Ther Adv Rare Dis
; 5: 26330040241245721, 2024.
Artigo
Inglês
| MEDLINE | ID: mdl-38681798
5.
Effectiveness of L-serine supplementation in children with a GRIN2B loss-of-function mutation: Rationale and protocol for single patient (n-of-1) multiple cross-over trials.
Contemp Clin Trials Commun
; 36: 101233, 2023 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-38144875
6.
Use of dornase alfa in the paediatric intensive care unit: current literature and a national cross-sectional survey.
Eur J Hosp Pharm
; 29(3): 123-128, 2022 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33122405
7.
The Association between Weather Conditions and Admissions to the Paediatric Intensive Care Unit for Respiratory Syncytial Virus Bronchiolitis.
Pathogens
; 10(5)2021 May 07.
Artigo
Inglês
| MEDLINE | ID: mdl-34067031
8.
NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum.
Front Neurol
; 12: 668640, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34163424
9.
Gut-directed hypnotherapy versus standard medical treatment for nausea in children with functional nausea or functional dyspepsia: protocol of a multicentre randomised trial.
BMJ Open
; 9(4): e024903, 2019 04 11.
Artigo
Inglês
| MEDLINE | ID: mdl-30975672