Results 61 to 70 of about 172,120 (351)
Survival, Quality of Life and Effects of Enzyme Replacement Therapy in Adults with Pompe Disease [PDF]
, 2013 Pompe disease, or glycogen storage disorder type II, is a rare inherited metabolic disorder caused by deficiency of the lysosomal enzyme acid α-glucosidase.
Güngör, D. (Deniz)
core +1 more source
A patient with glycogen storage disease type Ib presenting with acute myeloid leukemia (AML) bearing monosomy 7 and translocation t(3;8)(q26;q24) after 14 years of treatment with granulocyte colony-stimulating factor (G-CSF): A case report [PDF]
, 2008 Introduction Glycogen storage disease type Ib is an autosomal recessive transmitted disorder of glycogen metabolism caused by mutations in the glucose-6-phosphate translocase gene on chromosome 11q23 and leads to disturbed glycogenolysis as well as ...
Thomas Schroeder +15 more
core +2 more sources
Journal of Korean medical science, 2019 Background Glycogen storage disease (GSD) is an inherited disorder leading to abnormal glucose metabolism and glycogen accumulation, and is associated with various complications including hepatic adenoma and hepatocellular carcinoma.
Hyo-Jeong Jang +5 more
semanticscholar +1 more source
Advanced Healthcare Materials, EarlyView.Ionizable lipid nanoparticles target multiple pathological pathways in neurodegeneration. The designed self‐assembled materials undergo a pH‐triggered structural transformation from a cubosome/hexosome coexistence to a hexosome phase, enhancing intracellular delivery of a multi‐target phytochemical formulation. The antioxidant‐loaded pH‐responsive LNPs
Thelma Akanchise +4 more
wiley +1 more source
Angewandte Chemie, EarlyView.Current interest in artificial cell research underscores its potential to deepen our understanding of life's fundamental processes. This review highlights advances in bottom‐up coacervate‐based artificial cell engineering via combined integration of cellular hallmarks.
Arjan Hazegh Nikroo +3 more
wiley +2 more sources
Current Clinical Guidelines for the Management of Patients with Glycogen Storage Disease
Педиатрическая фармакологияGlycogen storage disease refers to hereditary pathologies of carbohydrate metabolism, its cause is mutations of various genes encoding enzymes responsible for the synthesis and breakdown of glycogen.
Natalia A. Averkina +29 more
doaj +1 more source
Advanced Science, EarlyView.TRF enriches Ruminococcus, a bacterial genus producing SCFAs, and activates the epithelial HIF‐1α signaling pathway. This mechanism protects the colonic mucosa from inflammatory insults in colitis models. Mechanistically, gut lactate production during starvation and refeeding mediates H4K12la, which increases SLC9A3 expression and creates an acidic gut
Linwen Huang +17 more
wiley +1 more source
Frontiers in Neurology, 2022 BackgroundGlycogen storage disease (GSDs) is characterized by abnormally inherited glycogen metabolism. GSD IXd, which is caused by mutations in the PHKA1 gene, is an X-linked rare disease with mild myopathic symptoms.
Kun Huang +11 more
doaj +1 more source
Nerve damage induced skeletal muscle atrophy is associated with increased accumulation of intramuscular glucose and polyol pathway intermediates [PDF]
, 2020 Perturbations in skeletal muscle metabolism have been reported for a variety of neuromuscular diseases. However, the role of metabolism after constriction injury to a nerve and the associated muscle atrophy is unclear.
Afzal, Shoaib +3 more
core +2 more sources
Integrating Spatial Proteogenomics in Cancer Research
Advanced Science, EarlyView.Xx xx. ABSTRACT Background: Spatial proteogenomics marks a paradigm shift in oncology by integrating molecular analysis with spatial information from both spatial proteomics and other data modalities (e.g., spatial transcriptomics), thereby unveiling tumor heterogeneity and dynamic changes in the microenvironment.
Yida Wang +13 more
wiley +1 more source