Results 41 to 50 of about 556,889 (346)
International Journal of Neonatal Screening, 2023 The Recommended Uniform Screening Panel (RUSP) is the list of conditions recommended by the US Secretary of Health and Human Services for inclusion in state newborn screening (NBS).
Sikha Singh +4 more
doaj +1 more source
Destabilization of mutated human PUS3 protein causes intellectual disability
Human Mutation, Volume 43, Issue 12, Page 2063-2078, December 2022., 2022 The homodimer of pseudouridine synthase 3 converts uridines at position 39 in tRNAs to pseudouridine (ψ), which affects tRNA stability and regulates RNA–protein interactions. Several patient‐derived variants of PUS3 have been associated with neurodegenerative diseases.
Ting‐Yu Lin +17 more
wiley +1 more source
Children, 2023 Glycogen storage disease type IV (GSD IV) (OMIM #232500) is an autosomal recessive disorder caused by deficiency of the glycogen-branching enzyme. Here, we report a patient presenting with prematurity and severe hypotonia resulting from a complicated ...
Handan Bezirganoglu, Kubra Adanur Saglam
doaj +1 more source
PLoS ONE, 2023 Glycogen storage disease type I (GSD I) is a rare autosomal recessive inborn error of carbohydrate metabolism caused by the defects of glucose-6-phosphatase complex (G6PC).
Bushra Gul +4 more
doaj +1 more source
Patients with glycogen storage diseases undergoing anesthesia: a case series
BMC Anesthesiology, 2017 Background Glycogen storage diseases are rare genetic disorders of glycogen synthesis, degradation, or metabolism regulation. When these patients are subjected to anesthesia, perioperative complications can develop, including hypoglycemia, rhabdomyolysis,
Carmelina Gurrieri +3 more
doaj +1 more source
Diabetology & Metabolic Syndrome, 2023 Background Glycogen storage disease type 1b (GSD1b) is an autosomal recessive lysosomal storage disease caused by defective glucose-6-phosphate transporter encoded by SLC37A4 leading to the accumulation of glycogen in various tissues.
Latifa Chkioua +8 more
doaj +1 more source
Towards Assessing Data Bias in Clinical Trials [PDF]
, 2022 Algorithms and technologies are essential tools that pervade all aspects of our daily lives. In the last decades, health care research benefited from new computer-based recruiting methods, the use of federated architectures for data storage, the introduction of innovative analyses of datasets, and so on.
arxiv +1 more source
A sensitivity analysis of a mathematical model for the synergistic interplay of Amyloid beta and tau on the dynamics of Alzheimer's disease [PDF]
Brain Multiphysics, 2:100020/1-13, 2021, 2020 We propose a mathematical model for the onset and progression of Alzheimer's disease based on transport and diffusion equations. We treat brain neurons as a continuous medium and structure them by their degree of malfunctioning. Three different mechanisms are assumed to be relevant for the temporal evolution of the disease: i) diffusion and ...
arxiv +1 more source
Toward 3D‐Bioprinted Models of the Liver to Boost Drug Development
Macromolecular Bioscience, Volume 22, Issue 12, December 2022., 2022 During preclinical studies, bidimensional in vitro models and animal models are synergically exploited to forecast safety and efficacy. 3D‐bioprinting is exploited to produce complex in vitro models, able to mimic physiological and pathological conditions, thus aiming to overcome the conventional paradigm.
Giuseppe Guagliano +5 more
wiley +1 more source
An In-Depth Comparative Analysis of Cloud Block Storage Workloads: Findings and Implications [PDF]
arXiv, 2022 Cloud block storage systems support diverse types of applications in modern cloud services. Characterizing their I/O activities is critical for guiding better system designs and optimizations. In this paper, we present an in-depth comparative analysis of production cloud block storage workloads through the block-level I/O traces of billions of I/O ...
arxiv