Results 81 to 90 of about 1,079,925 (266)
Nursing staff involvement of children in care activities: A cross-sectional study. [PDF]
Bawah RK +5 more
europepmc +1 more source
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw +5 more
wiley +1 more source
Immunisation status of children receiving care and support in Wales: a national data linkage study. [PDF]
Bailey GA +6 more
europepmc +1 more source
Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan
ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito +8 more
wiley +1 more source
Gender, Addiction, and Removal of Children Into Care. [PDF]
Russell L +3 more
europepmc +1 more source
White Matter Microstructural Abnormalities in Neonatal Onset Genetic Epilepsy
ABSTRACT Objective Recent evidence indicates that epilepsy is associated with abnormal white matter. If seizures alter white matter, then the impact upon network function, epileptogenesis, and cognition could be pronounced in neonates undergoing rapid developmental myelination. Neonates with epilepsy due to nonstructural genetic causes provide a unique
Amanda G. Sandoval Karamian +8 more
wiley +1 more source
Book review: Foster by Claire Keegan
On one of the bank and public holidays afforded to us in Scotland in May I read the short story Foster by Claire Keegan. Not having read the acclaimed Small Things Like These, I was new to the work of this Irish writer and confess that I was simply in ...
Samantha Fiander
doaj +1 more source
Rarely does a book about the modern ills of the welfare state excite to this degree. Cottam's accessibly written analysis of the lack of fit between Beveridge's plan for a welfare state that responded to discrete problems with specific 'neutral ...
Claire Cameron
doaj +1 more source
'Children Kidney Care Centers': Rationale, requirements and recommendations for best facilities and better future. [PDF]
Jain S.
europepmc +1 more source
Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier +6 more
wiley +1 more source

