Results 151 to 160 of about 371,290 (294)

Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan, Jordan Safran, Anna Loughman, Grace Lin, Shivanshi Vaid, Dana Allababidi, Peter M. Tessier, Louis T. Dang   +7 more
wiley   +1 more source

Development and evaluation of a German Paediatric Trigger Tool (PAED-TT-GER) for detecting adverse events in hospitalized children. [PDF]

Eur J Pediatr
Peters A, Schulz I, Müller N, Weigl M.
europepmc   +1 more source

Factors Influencing The Physical Activity Levels In Hong Kong Chinese Paediatric Oncology Patients

, 2016
Background/Objectives: Despite the numerous health benefits from physical activity, there is a growing concern about physical inactivity in Hong Kong Chinese paediatric oncology patients.
Lam, KWK, Li, WHC
core  

The Price of Precision: A Critical Review of Molecular Diagnostics in Glioma, From Guidelines to Global Disparities

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Gliomas have undergone a profound redefinition over the past decade, transitioning from morphology‐based entities to biologically coherent diseases defined by molecular alterations. The 2021 WHO Classification of Tumors of the Central Nervous System and its 2022 update formalize this shift, establishing integrated diagnosis as the global ...
Maria Guarnaccia, Sebastiano Cavallaro
wiley   +1 more source

How can children benefit from total-body PET? [PDF]

Br J Radiol
van Snick JH, Ivashchenko OV, van Sluis J, de Langen LB, van den Oever GC, Roya M, Glaudemans AWJM, Slart RHJA.   +7 more
europepmc   +1 more source

MCQ's in paediatrics [PDF]

Archives of Disease in Childhood, 1982
openaire   +2 more sources

PAEDIATRIC NEUROLOGY [PDF]

Developmental Medicine & Child Neurology, 1979
M, Bax, K, Brown
openaire   +2 more sources

Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou, Colin Reilly, Kalliopi Sofou, Sofia Ygberg, Erik A. Eklund, Karin Naess, Niklas Darin   +6 more
wiley   +1 more source

Alarm Fatigue and Missed Nursing Care Among Neonatal and Paediatric Intensive Care Nurses: A Cross-Sectional Study. [PDF]

Nurs Crit Care
Likos B, Tanrıkulu F.
europepmc   +1 more source

The Zoonoses and Paediatrics [PDF]

Postgraduate Medical Journal, 1956
openaire   +2 more sources