Results 211 to 220 of about 57,504 (328)
ABSTRACT Objective To investigate the status and influencing factors of caring readiness among parents of children undergoing liver transplantation transitioning from the intensive care unit, and to explore the associations between caring readiness and other variables. Design A cross‐sectional study.
Jingyun Wu+8 more
wiley +1 more source
Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disease caused by mutations in the gene encoding the lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS), resulting in the accumulation of keratan sulfate (KS) and chondroitin-6 ...
Luisa N. Pimentel-Vera+10 more
doaj
Analysis of readability of the top web searches for pediatric inborn errors of fatty acid metabolism. [PDF]
Sawyer K+5 more
europepmc +1 more source
Gaucher disease, state of the art and perspectives
Abstract Knowledge about Gaucher disease (GD), considered a model for rare diseases, has considerably increased since its discovery. The pathophysiology of this lysosomal disorder is better known, and specific therapies that can control many aspects of the disease have been developed, particularly for the most common form, Type 1 GD.
Fabrice Camou, Marc G. Berger
wiley +1 more source
Autoimmune manifestations in children with inborn errors of immunity in Morocco: A study from the national registry. [PDF]
Elamine A+8 more
europepmc +1 more source
A Practical Guide to Genetic Eye Conditions for Paediatricians
ABSTRACT Introduction Inherited eye disorders, though individually rare, are a collectively common cause of paediatric vision impairment. Many occur as part of a syndrome, in association with congenital anomalies and/or growth/developmental disorders.
Richard Lin+5 more
wiley +1 more source
Tandem mass spectrometry in screening for inborn errors of metabolism: comprehensive bibliometric analysis. [PDF]
Kononets V+7 more
europepmc +1 more source
ABSTRACT The Lebanese National Dietary and Lifestyle Guidelines for Pregnancy (DLGP) were developed to foster maternal and child health. The study aims to examine adherence to the DLGP and investigate its association with postpartum weight retention at 6 months (PPWR6).
Fatima Al Zahraa Chokor+8 more
wiley +1 more source
Mental Health Across the Metabolic Spectrum. [PDF]
Saxena V, Marin-Valencia I.
europepmc +1 more source