Results 41 to 50 of about 172,120 (351)

Late Diagnosis of Fanconi-Bickel Syndrome

Journal of Inborn Errors of Metabolism and Screening, 2016
Fanconi-Bickel syndrome (FBS), also known as glycogen storage disease type XI (GSD XI), is a rare autosomal recessive disorder of carbohydrate metabolism.
Nirupama Gupta MD, Bimota Nambam MD, David A. Weinstein MD, MMSc, Lawrence R. Shoemaker MD   +3 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, Juraj Sprung, Toby N. Weingarten, Mary E. Warner   +3 more
doaj   +1 more source

Radiography of glycogen storage diseases [PDF]

American Journal of Roentgenology, 1979
Sixty-three patients with glycogen storage disease were evaluated. Findings on plain film examinations, excretory urography, barium gastrointestinal studies, ultrasonography, and angiography were categorized by type of glycogen storage disease. In type I findings include hepatomegaly with hepatic dysfunction, renomegaly with an increased incidence of ...
J H, Miller, P, Stanley, G F, Gates
openaire   +2 more sources

Neurological Characteristics of Pediatric Glycogen Storage Disease

Frontiers in Endocrinology, 2021
Glycogen storage diseases (GSD) encompass a group of rare inherited diseases due dysfunction of glycogen metabolism. Hypoglycemia is the most common primary manifestation of GSD, and disturbances in glucose metabolism can cause neurological damage.
Julio Henrique Muzetti, Julio Henrique Muzetti, Julio Henrique Muzetti, Daniel Almeida do Valle, Daniel Almeida do Valle, Daniel Almeida do Valle, Mara L. S. Ferreira Santos, Bruno Augusto Telles, Mara L. Cordeiro, Mara L. Cordeiro, Mara L. Cordeiro   +10 more
doaj   +1 more source

Untargeted plasma metabolomics identifies broad metabolic perturbations in glycogen storage disease type I

Journal of Inherited Metabolic Disease, 2020
The metabolic defect in glycogen storage disease type I (GSDI) results in fasting hypoglycemia and typical secondary metabolic abnormalities (eg, hypertriglyceridemia, hyperlactatemia, hyperuricemia).
T. Mathis, M. Poms, H. Köfeler, M. Gautschi, B. Plecko, M. Baumgartner, M. Hochuli   +6 more
semanticscholar   +1 more source

Small-molecule inhibition of glycogen synthase 1 for the treatment of Pompe disease and other glycogen storage disorders

Science Translational Medicine
Glycogen synthase 1 (GYS1), the rate-limiting enzyme in muscle glycogen synthesis, plays a central role in energy homeostasis and has been proposed as a therapeutic target in multiple glycogen storage diseases. Despite decades of investigation, there are
J. Ullman, Kevin T. Mellem, Yannan Xi, Vyas Ramanan, H. Merritt, Rebeca Choy, Tarunmeet Gujral, L. Young, Kerrigan Blake, S. Tep, J. Homburger, Adam O’Regan, S. Ganesh, Perryn Wong, Terrence F. Satterfield, Baiwei Lin, Eva Situ, Cecile Yu, Bryan Espanol, Richa Sarwaikar, Nathan Fastman, Christos Tzitzilonis, Patrick Lee, Daniel Reiton, V. Morton, Pam Santiago, Walter S. Won, Hannah Powers, Beryl B Cummings, Maarten Hoek, Robert R. Graham, S. Chandriani, R. Bainer, A. DePaoli-Roach, Peter J. Roach, Thomas D. Hurley, Ramon C. Sun, Matthew S. Gentry, C. Sinz, Ryan A Dick, S. Noonberg, David T Beattie, David J. Morgans Jr., Eric M. Green   +43 more
semanticscholar   +1 more source

Research priorities for liver glycogen storage disease: An international priority setting partnership with the James Lind Alliance

Journal of Inherited Metabolic Disease, 2019
The international liver glycogen storage disease (GSD) priority setting partnership (IGSDPSP) was established to identify the top research priorities in this area.
Fabian Peeks, Willemijn F Boonstra, Lut de Baere, Camilla Carøe, T. Casswall, Damián Cohen, K. Cowan, I. Ferrecchia, Alberto Ferriani, C. Gimbert, M. Landgren, Nerea López Maldonado, J. McMillan, A. Németh, N. Seidita, U. Stachelhaus-Theimer, D. Weinstein, T. Derks   +17 more
semanticscholar   +1 more source

A nationwide assessment of hepatocellular adenoma resection: Indications and pathological discordance

Hepatology Communications, EarlyView., 2022
Abstract Hepatocellular adenomas (HCAs) are benign liver tumors associated with bleeding or malignant transformation. Data on the indication for surgery are scarce. We analyzed indications and outcome of patients operated for HCAs < 50 mm compared to HCAs ≥ 50 mm. Changes in final postoperative diagnosis were assessed.
Martijn P. D. Haring, Arthur K. E. Elfrink, Christiaan A. J. Oudmaijer, Paul C. M. Andel, Alicia Furumaya, Nenke de Jong, Colin J. J. M. Willems, Thijs Huits, Julie M. L. Sijmons, Eric J. T. Belt, Koop Bosscha, Esther C. J. Consten, Mariëlle M. E. Coolsen, Peter van Duijvendijk, Joris I. Erdmann, Paul Gobardhan, Robbert J. de Haas, Tjarda van Heek, Hwai‐Ding Lam, Wouter K. G. Leclercq, Mike S. L. Liem, Hendrik A. Marsman, Gijs A. Patijn, Türkan Terkivatan, Babs M. Zonderhuis, Izaak Quintus Molenaar, Wouter W. te Riele, Jeroen Hagendoorn, Alexander F. M. Schaapherder, Jan N. M. IJzermans, Carlijn I. Buis, Joost M. Klaase, Koert P. de Jong, Vincent E. de Meijer, the Dutch Benign Liver Tumor Group, R. B. Takkenberg, J. Verheij, O. M. van Delden, J. I. Erdmann, B. V. van Rosmalen, A. Furumaya, G. Kazemier, D. Ramsoekh, J. N. M. IJzermans, R. A. de Man, M. D. Doukas, M. G. Thomeer, A. J. Klompenhouwer, A. F. M. Schaapherder, M. E. Tushuizen, M. J. Coenraad, A. S. L. P. Crobach, M. C. Burgmans, S. Feshtali, M. M. E. Coolsen, M. Kramer, J. C. Beckervordersandforth, I. V. Samarska, C. van der Leij, R. Miclea, J. H. W. de Wilt, P. B. van den Boezem, E. T. T. L. Tjwa, I. Munsterman, S. Vos, S. van Koeverden, V. E. de Meijer, F. J. C. Cuperus, R. J. de Haas, E. W. Duiker, M. P. D. Haring   +70 more
wiley   +1 more source

SLC37A4-CDG: Mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylation

Molecular Genetics and Metabolism Reports, 2020
Loss-of-function of the glucose-6-phosphate transporter is caused by biallelic mutations in SLC37A4 and leads to glycogen storage disease Ib. Here we describe a second disease caused by a single dominant mutation in the same gene.
Thorsten Marquardt, Vladimir Bzduch, Max Hogrebe, Stephan Rust, Janine Reunert, Marianne Grüneberg, Julien Park, Nico Callewaert, Robin Lachmann, Yoshinao Wada, Thomas Engel   +10 more
doaj   +1 more source

Glycogen storage disease type Ib: role of glucose‐6‐phosphate transporter in cell metabolism and function

FEBS Letters, 2019
Cellular metabolism generally refers to biochemical processes that produce or consume energy within the cell. Recent studies have established that aberrant metabolic states caused by internal or external stresses and genetic mutations are intertwined ...
S. Sim, D. Weinstein, Young Mok Lee, H. Jun   +3 more
semanticscholar   +1 more source