Results 1 to 10 of about 145,382 (98)
Editorial: Inborn errors of carbohydrate metabolism
Frontiers in GeneticsIván Martínez-Duncker +3 more
doaj +3 more sources
Hepatology, EarlyView., 2022 Hepatic endothelial Alk1 signaling protects from development of vascular malformations while maintaining organ‐specific endothelial differentiation and angiocrine portmanteau of the names Wingless and Int‐1 signaling. Abstract Background and Aims In hereditary hemorrhagic telangiectasia (HHT), severe liver vascular malformations are associated with ...
Christian David Schmid +20 more
wiley +1 more source
Automated Insulin Delivery for Type 1 Diabetes Mellitus Patients using Gaussian Process-based Model Predictive Control [PDF]
American Control Conference (ACC) 2019, 2021 The human insulin-glucose metabolism is a time-varying process, which is partly caused by the changing insulin sensitivity of the body. This insulin sensitivity follows a circadian rhythm and its effects should be anticipated by any automated insulin delivery system. This paper presents an extension of our previous work on automated insulin delivery by
arxiv +1 more source
Ocular Manifestations of Inborn Errors of Carbohydrate and Lipid Metabolism [PDF]
Archives of Ophthalmology, 1976 Inborn errors of metabolism comprise the mucolipidoses and abnormalities in the metabolism of carbohydrates and of lipids. A large number have ocular manifestations, some of which are essential to the specific diagnoses. The carbohydrate syndromes include galactosemia, with its characteristic cataracts; glycogen storage, with surprisingly few ocular ...
openaire +4 more sources
BMC Pediatrics, 2019 Background The literature suggests that 0.9 to 6% of infants who die unexpectedly may have had a metabolic disorder. At least 43 different inborn errors of metabolism (IEMs) have been associated with sudden death (SUDI).
F. H. de Bitencourt +2 more
doaj +1 more source
Ketogenic diet in action: Metabolic profiling of pyruvate dehydrogenase deficiency
Molecular Genetics and Metabolism Reports, 2023 The pyruvate dehydrogenase complex serves as the main connection between cytosolic glycolysis and the tricarboxylic acid cycle within mitochondria. An infant with pyruvate dehydrogenase complex deficiency was treated with vitamin B1 supplementation and a
Eri Ogawa +6 more
doaj
Metabolic Disorders: Inborn Errors of Carbohydrate Metabolism
DeckerMed Medicine, 2019 The small molecule diseases include the inborn errors of carbohydrate, ammonia, amino acid, organic acid, and fatty acid metabolism. They are central to the cohort of biochemical genetic diseases that are often associated with catastrophic presentations and life-threatening illness during infancy and childhood.
Sameer S. Chopra, Gerald T Berry
openaire +1 more source
Interpretable machine learning-accelerated seed treatment by nanomaterials for environmental stress alleviation [PDF]
, 2023 Crops are constantly challenged by different environmental conditions. Seed treatment by nanomaterials is a cost-effective and environmentally-friendly solution for environmental stress mitigation in crop plants. Here, 56 seed nanopriming treatments are used to alleviate environmental stresses in maize.
arxiv +1 more source
Scientific Reports, 2017 Mitochondrial disorders are among the most prevalent inborn errors of metabolism but largely lack treatments and have poor outcomes. High-fat, low-carbohydrate ketogenic diets (KDs) have shown beneficial effects in mouse models of mitochondrial ...
Janne Purhonen +11 more
doaj +1 more source
Carbohydrate NMR chemical shift predictions using E(3) equivariant graph neural networks [PDF]
arXiv, 2023 Carbohydrates, vital components of biological systems, are well-known for their structural diversity. Nuclear Magnetic Resonance (NMR) spectroscopy plays a crucial role in understanding their intricate molecular arrangements and is essential in assessing and verifying the molecular structure of organic molecules. An important part of this process is to
arxiv