Results 31 to 40 of about 38,348 (306)

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

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

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

Platelet glycogenolysis is important for energy production and function

Platelets, 2023
Although the presence of glycogen in platelets was established in the 1960s, its importance to specific functions (i.e., activation, secretion, aggregation, and clot contraction) remains unclear.
Kanakanagavalli Shravani Prakhya, Hemendra Vekaria, Daniёlle M. Coenen, Linda Omali, Joshua Lykins, Smita Joshi, Hammodah R. Alfar, Qing Jun Wang, Patrick Sullivan, Sidney W. Whiteheart   +9 more
doaj   +1 more source

Skeletal Muscle Glycogen Chain Length Correlates with Insolubility in Mouse Models of Polyglucosan-Associated Neurodegenerative Diseases

Cell Reports, 2019
Summary: Lafora disease (LD) and adult polyglucosan body disease (APBD) are glycogen storage diseases characterized by a pathogenic buildup of insoluble glycogen. Mechanisms causing glycogen insolubility are poorly understood.
Mitchell A. Sullivan, Silvia Nitschke, Evan P. Skwara, Peixiang Wang, Xiaochu Zhao, Xiao S. Pan, Erin E. Chown, Travis Wang, Ami M. Perri, Jennifer P.Y. Lee, Francisco Vilaplana, Berge A. Minassian, Felix Nitschke   +12 more
doaj   +1 more source

Cell surface interactome analysis identifies TSPAN4 as a negative regulator of PD‐L1 in melanoma

Molecular Oncology, EarlyView.
Using cell surface proximity biotinylation, we identified tetraspanin TSPAN4 within the PD‐L1 interactome of melanoma cells. TSPAN4 negatively regulates PD‐L1 expression and lateral mobility by limiting its interaction with CMTM6 and promoting PD‐L1 degradation.
Guus A. Franken, Andrea Abel Gutierrez, Imke van Rossum, Cornelia G. Spruijt, Michiel Vermeulen, Guido van Mierlo, Blanca Scheijen, Annemiek B. van Spriel   +7 more
wiley   +1 more source

Expanding the clinicopathological-genetic spectrum of glycogen storage disease type IXd by a Chinese neuromuscular center

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, Kun Huang, Hui-Qian Duan, Hui-Qian Duan, Qiu-Xiang Li, Qiu-Xiang Li, Yue-Bei Luo, Yue-Bei Luo, Fang-Fang Bi, Fang-Fang Bi, Huan Yang, Huan Yang   +11 more
doaj   +1 more source

Tumour–host interactions in Drosophila: mechanisms in the tumour micro‐ and macroenvironment

Molecular Oncology, EarlyView.
This review examines how tumour–host crosstalk takes place at multiple levels of biological organisation, from local cell competition and immune crosstalk to organism‐wide metabolic and physiological collapse. Here, we integrate findings from Drosophila melanogaster studies that reveal conserved mechanisms through which tumours hijack host systems to ...
José Teles‐Reis, Tor Erik Rusten
wiley   +1 more source

Computed Tomography and Magnetic Resonance Imaging Features of Primary and Secondary Hepatic Glycogenosis

Annals of Hepatology, 2018
Glycogen storage disease type I and glycogenic hepatopathy are the most common type of primary and secondary hepatic glycogenosis, with presenting common radiological features of hepatomegaly, hepatic signal, or density change.
Zhi-yuan Chen, Yu-pin Liu, Guang-juan Zheng   +2 more
doaj   +1 more source