Results 61 to 70 of about 7,613 (182)
FENILCETONÚRIA: UMA REVISÃO DE LITERATURA [PDF]
, 2014 A Fenilcetonúria, causada pela deficiência da enzima fenilalanina hidroxilase e a causa mais frequente de retardo mental, desponta como a mais comum das doenças que envolvem erros congênitos.
Ascenso Rosa, Ruy Roberto Porto +2 more
core +1 more source
SCIENTIFIC CONTRIBUTION TO TECHNOLOGICAL INNOVATION: ANALYSIS OF RESEARCH STRATEGIES IN REFERENCE DATABASES. [PDF]
, 2021 Tesis doctoral en período de exposición públicaDoctorado en Tecnología de Invernaderos e Ingeniería Industrial (RD99/11 ...
Cascajares Rupérez, Milagros
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Public Administration, EarlyView.ABSTRACT While public administration research has begun exploring the impact of women's representation in top leadership positions in public organizations, the conditions under which women's representation in top management teams (TMTs) produces policies specifically benefiting women remain underexamined.
Ting Huang +3 more
wiley +1 more source
The nutritional profiling of special feeds for phenylketonuria [PDF]
, 2021 In children with classical phenylketonuria (PKU), a lifelong low phenylalanine diet is the only treatment option with natural protein (phenylalanine) intake restricted to < 20% of safe recommended intake [1] to minimise neurological damage. The diet must
Daly, Anne
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Policy Studies Journal, EarlyView.ABSTRACT Despite extensive research on policy diffusion, the ways in which policy attention influences this process remain underexplored. This study addressed this gap by distinguishing between three types of policy attention—political speeches, policy issuance and field visits—and investigating their differential impacts when delivered by central and ...
Xiangning Chen, Yahua Wang
wiley +1 more source
RNA‐Based Therapies for Inherited Metabolic Disorders
Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.ABSTRACT Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences. Despite significant progress in understanding their molecular basis, treatment options remain limited ...
Reddy Sreekanth Vootukuri +5 more
wiley +1 more source
The Shared Genetic Architecture of Modifiable Risk for Dementia and its Influence on Brain Health [PDF]
, 2022 Targeting modifiable risk factors for dementia may prevent or delay dementia. However, the mechanisms by which risk factors influence dementia remain unclear and current research often ignores commonality between risk factors.
Foote, I
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Clinical and Translational Medicine, Volume 16, Issue 2, February 2026.SpliCOOL‐seq achieves high‐throughput single‐cell co‐profiling of DNA methylation and chromatin accessibility. DNMT inhibitors caused cancer cell demethylation with divergent patterns. SpliCOOL‐seq enables the discovery of genes related to LUAD tumorigenesis. Ageing and LUAD tumorigenesis may share similar epigenetic alterations.
Qingmei Shen +6 more
wiley +1 more source
PsyCh Journal, Volume 15, Issue 1, February 2026.ABSTRACT Autistic individuals exhibit differences in Theory of Mind (ToM) compared to neurotypical (NT) individuals. The aim of this study was to meta‐analyse the neural correlates that contributed to the manifestation of the expression differences in ToM between autistic individuals and the NT population.
Hanran Li +5 more
wiley +1 more source