Results 11 to 20 of about 361,476 (236)

Liver transplantation for type IV glycogen storage disease [PDF]

, 1991
TYPE IV glycogen storage disease is a rare autosomal recessive disorder (also called Andersen's disease1 or amylopectinosis) in which the activity of branching enzyme alpha-1, 4-glucan: alpha-1, 4-glucan 6-glucosyltransferase is deficient in the liver as
Andreas Tzakis, Bannayan, Barbara I. Brown, Brown, Eduardo Yunis, Greene, Illingworth, Ishihara, Ishihara, Mazzaferro, McMaster, Reed, Rick Selby, Ross S. Kendall, Schochet, Stand, Starzl, Thomas E. Starzl   +17 more
core   +3 more sources

Ketotic hypoglycemia in patients with Down syndrome

JIMD Reports, 2021
Background Ketotic hypoglycemia (KH) without an identifiable underlying metabolic or hormonal disease is historically named idiopathic KH. The prevalence is unknown, but idiopathic KH is considered the most frequent cause of hypoglycemia beyond the ...
Danielle Drachmann, Austin Carrigg, David A. Weinstein, Jacob Sten Petersen, Henrik Thybo Christesen   +4 more
doaj   +1 more source

Glycogenin is Dispensable for Glycogen Synthesis in Human Muscle, and Glycogenin Deficiency Causes Polyglucosan Storage [PDF]

, 2020
Glycogenin is considered to be an essential primer for glycogen biosynthesis. Nevertheless, patients with glycogenin-1 deficiency due to biallelic GYG1 (NM_004130.3) mutations can store glycogen in muscle.
Dellgren, Göran, Glamuzina, Emma, Hedberg-Oldfors, Carola, Hernandez-Lain, Aurelio, Kornblum, Cornelia, Oldfors, Anders, Roach, Peter, Sandstedt, Joakim, Tasca, Giorgio, Thomsen, Christer, Visuttijai, Kittichate   +10 more
core   +1 more source

Manipulation of glycogen and sucrose synthesis increases photosynthetic productivity in cyanobacteria

Frontiers in Microbiology, 2023
Photosynthetic productivity is limited by low energy conversion efficiency in naturally evolved photosynthetic organisms, via multiple mechanisms that are not fully understood.
Michael Cantrell, Melissa Cano, Jacob Sebesta, Troy Paddock, Wei Xiong, Katherine J. Chou, Jianping Yu   +6 more
doaj   +1 more source

Does the Nutritional Composition of Dairy Milk Based Recovery Beverages Influence Post-exercise Gastrointestinal and Immune Status, and Subsequent Markers of Recovery Optimisation in Response to High Intensity Interval Exercise?

Frontiers in Nutrition, 2021
This study aimed to determine the effects of flavored dairy milk based recovery beverages of different nutrition compositions on markers of gastrointestinal and immune status, and subsequent recovery optimisation markers.
Isabella Russo, Paul A. Della Gatta, Andrew Garnham, Judi Porter, Judi Porter, Louise M. Burke, Ricardo J. S. Costa   +6 more
doaj   +1 more source

Dynamics of training and acute exercise-induced shifts in muscular glucose transporter (GLUT) 4, 8, and 12 expression in locomotion versus posture muscles in healthy horses

Frontiers in Physiology, 2023
Important changes in glucose transporter (GLUT) expression should be expected if the glucose influx plays a pivotal role in fuelling or connecting metabolic pathways that are upregulated in response to exercise.
Carmen Vidal Moreno de Vega, Diete Lemmens, Constance de Meeûs d’Argenteuil, Berit Boshuizen, Berit Boshuizen, Lorie de Maré, Luc Leybaert, Klara Goethals, Jean Eduardo de Oliveira, Guilherme Hosotani, Dieter Deforce, Filip Van Nieuwerburgh, Lindsey Devisscher, Cathérine Delesalle   +13 more
doaj   +1 more source

Lafora disease offers a unique window into neuronal glycogen metabolism [PDF]

, 2018
Lafora disease (LD) is a fatal, autosomal recessive, glycogen-storage disorder that manifests as severe epilepsy. LD results from mutations in the gene encoding either the glycogen phosphatase laforin or the E3 ubiquitin ligase malin. Individuals with LD
Gentry, Matthew S., Guinovart, Joan J., Minassian, Berge A., Roach, Peter J., Serratosa, Jose M.   +4 more
core   +2 more sources

Glycogen Metabolism in Glycogen-rich Erythrocytes [PDF]

Blood, 1974
Abstract High concentrations of red blood cell glycogen were visualized by electron microscopy and demonstrated biochemically in amylo-1,6-glucosidase- and phosphorylase-deficient red blood cells. Glycogen concentration decreased as a function of cell age.
S W, Moses, N, Bashan, A, Gutman, P A, Ockerman   +3 more
openaire   +2 more sources

The Action of Recombinant Human Lysosomal α-Glucosidase (rhGAA) on Human Liver Glycogen: Pathway to Complete Degradation

International Journal of Translational Medicine, 2021
Glycogen is present in all tissues, but it is primarily stored in the liver and in muscle. As a branched chain carbohydrate, it is broken down by phosphorylase and debrancher enzymes, which are cytoplasmic.
Allen K. Murray
doaj   +1 more source

Role of Astrocytes in the Pathophysiology of Lafora Disease and Other Glycogen Storage Disorders

Cells, 2023
Lafora disease is a rare disorder caused by loss of function mutations in either the EPM2A or NHLRC1 gene. The initial symptoms of this condition are most commonly epileptic seizures, but the disease progresses rapidly with dementia, neuropsychiatric ...
Jordi Duran
doaj   +1 more source