Results 31 to 40 of about 1,246 (204)
PKU: attention and executive profile in early detected and adequately treated patients [PDF]
, 2021 Antecedentes: Los pacientes fenilcetonúricos, incluso adecuadamente diagnosticados y tratados, pueden resultar con disfunción neurocognitiva. Objetivo: Evaluar la neurocognición de niños fenilcetonúricos y su relación con variables de la enfermedad y su ...
Chiesa, Ana Elena +3 more
core
Cellular Oxidative Stress [PDF]
, 2022 This book collects 17 original research papers and 9 reviews that are part of the Special Issue “Cellular Oxidative Stress”, published in the journal Antioxidants.
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Revista CEFAC, 2010 TEMA: a fenilcetonúria é uma doença genética que provoca alterações bioquímicas conduzindo a uma deficiência na síntese de proteínas e de neurotransmissores, e prejudicando o processo de mielinização.
Patrícia Cotta Mancini +4 more
doaj +1 more source
Revista da Sociedade Brasileira de Fonoaudiologia, 2010 OBJETIVO: Investigar a existência de alterações na audição de crianças com fenilcetonúria diagnosticadas e tratadas precocemente e comparar os resultados com os encontrados nas avaliações auditivas de crianças normais de mesma idade.
Patrícia Cotta Mancini +5 more
doaj +1 more source
A Central Somatic Transmission Mediates Proprioceptive Facilitation of Muscle Pain
Advanced Science, EarlyView.Zhang et al. uncover a novel central mechanism for persistent muscle pain, in which TRPA1 sensitization in MeV proprioceptive neurons enhances somatic secretion. This, in turn, disinhibits descending pain control from neighboring noradrenergic locus coeruleus neurons via local GABAergic circuits, thereby promoting inflammatory muscle pain.
Xiaoyu Zhang +15 more
wiley +1 more source
The European challenges of funding orphan medicinal products [PDF]
, 2018 Funding of orphan medicinal products (OMPs) is an increasing challenge in the European Union (EU).To identify the different methods for public funding of OMPs in order to map the availability for rare disease patients, as well as to compare the public ...
Arickx, Francis +14 more
core +4 more sources
Highly Biomimetic Ectodermal Epithelial Organoids for Epithelial Barrier Stimulation Assays
Advanced Science, EarlyView.ABSTRACT Evaluating the potential toxicity of pharmaceuticals and biomaterials to ectodermal epithelia, such as the oral mucosa and skin, is indispensable in pre‐clinical assessments. However, this remains a challenge primarily owing to the lack of physiologically relevant and accurate screening models.
Yiming Chen +13 more
wiley +1 more source
Advanced Science, EarlyView.ABSTRACT Engineered ascorbate peroxidase APEX2 has been widely used for spatially restricted profiling of subcellular biomolecules, but its catalytic efficiency toward newly developed probes such as biotin‐aniline (Btn‐An) remains suboptimal. To overcome this limitation, we performed yeast surface display‐based directed evolution to enhance APEX2 ...
Gang Wang, Yi Li, Peiyuan Meng, Peng Zou
wiley +1 more source
Developmental and Phenotypic Outcomes in Mild Phenylalanine Hydroxylase Deficiency
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Benign hyperphenylalaninemia (bHPA) is defined as elevated phenylalanine (Phe) levels remaining ≤ 360 μmol/L (6 mg/dL) and not requiring medical intervention. Individuals with bHPA may demonstrate a rise in their Phe levels > 360 μmol/L, effectively developing a mild PKU phenotype requiring therapy to prevent neurocognitive complications. This
Aaron Williams +8 more
wiley +1 more source
Animal Models and Experimental Medicine, EarlyView.We established that mixed DdCBE microinjection is an efficient, heritable, and precise strategy for generating multiplex mtDNA mutant rats. This advancement significantly expands the utility of DdCBEs for mitochondrial disease modeling, providing a robust platform for exploring the pathogenic mechanisms of complex mtDNA mutations and developing ...
Xu Zhang +14 more
wiley +1 more source