Results 51 to 60 of about 104,643 (290)
Citrulline in the management of patients with urea cycle disorders
Orphanet Journal of Rare Diseases, 2023 Background Treatment recommendations for urea cycle disorders (UCDs) include supplementation with amino acids involved in the urea cycle (arginine and/or citrulline, depending on the enzyme deficiency), to maximize ammonia excretion through the urea ...
Apolline Imbard +10 more
doaj +1 more source
Aporia and the Implications for the Intuitive Knowledge of Children | Blog of the APA [PDF]
, 2018 The compass we use to navigate life needs to be cultivated from an early age. My sense is that the arts, including Plato’s dialogues cultivate our navigational sense. It does not tell us rationally what is good or what is bad.
Tillmanns, Maria daVenza
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Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz +3 more
wiley +1 more source
Scientific Reports, 2017 Previously, we demonstrated production of an active recombinant human N-acetylgalactosamine-6-sulfatase (rhGALNS) enzyme in Escherichia coli as a potential therapeutic alternative for mucopolysaccharidosis IVA.
Luis H. Reyes +4 more
doaj +1 more source
Arthritis Care &Research, Accepted Article.Objective We aimed to construct and evaluate the first laboratory‐based frailty index (FI‐Lab) for predicting adverse outcomes in systemic lupus erythematosus (SLE) and to compare its predictive ability to that of an existing clinical frailty index (FI).
Grace Burns +2 more
wiley +1 more source
Arthritis Care &Research, Accepted Article.Objective To evaluate the sensitivity of the 2023 ACR/EULAR classification criteria for antiphospholipid syndrome (APS) in a real‐world cohort of women diagnosed with primary obstetric APS (oAPS), and to assess their ability to identify patients at risk of future pregnancy complications.
Francesca Ruffilli +10 more
wiley +1 more source
Tissue Engineered Human Elastic Cartilage From Primary Auricular Chondrocytes for Ear Reconstruction
Advanced Functional Materials, EarlyView.Despite over three decades of research, no tissue‐engineered solution for auricular reconstruction in microtia patients has reached clinical translation. The key challenge lies in generating functional elastic cartilage ex vivo. Here, we integrate synergistic cell‐biomaterial strategies to engineer auricular grafts with mechanical and histological ...
Philipp Fisch +13 more
wiley +1 more source
Computational Modeling Meets 3D Bioprinting: Emerging Synergies in Cardiovascular Disease Modeling
Advanced Healthcare Materials, EarlyView.Emerging advances in three‐dimensional bioprinting and computational modeling are reshaping cardiovascular (CV) research by enabling more realistic, patient‐specific tissue platforms. This review surveys cutting‐edge approaches that merge biomimetic CV constructs with computational simulations to overcome the limitations of traditional models, improve ...
Tanmay Mukherjee +7 more
wiley +1 more source
Universitas Scientiarum, 2016 β-hexosaminidases (Hex) are dimeric enzymes involved in the lysosomal degradation of glycolipids and glycans. They are formed by α- and/or β-subunits encoded byHEXA and HEXB genes, respectively.
Angela Johana Espejo Mojica +7 more
doaj +1 more source
Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification. [PDF]
, 2020 Since 2013, the International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) has published an updated phenotypic classification of IEI, which accompanies and complements their genotypic classification ...
Ailal, Fatima +18 more
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