Results 1 to 10 of about 80,863 (210)

Dysregulation of multiple facets of glycogen metabolism in a murine model of Pompe disease. [PDF]

PLoS ONE, 2013
Pompe disease, also known as glycogen storage disease (GSD) type II, is caused by deficiency of lysosomal acid α-glucosidase (GAA). The resulting glycogen accumulation causes a spectrum of disease severity ranging from a rapidly progressive course that ...
Kristin M Taylor, Elizabeth Meyers, Michael Phipps, Priya S Kishnani, Seng H Cheng, Ronald K Scheule, Rodney J Moreland   +6 more
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Systemic Emboli and Biventricular Hypertrophy Due to Glycogen Storage Disease: Clinical, Imaging, and Pathologic Predicament

Annals of Internal Medicine: Clinical Cases, 2023
Glycogen storage disease cardiomyopathy is being recognized increasingly as a mimicker of hypertrophic cardiomyopathy. It is important to diagnose these diseases, as there are prognostic and treatment ramifications.
Amirhossein Esmaeeli, Prashant Nagpal, Jefree J. Schulte, Sofia C. Masri, Peter S. Rahko   +4 more
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Hepatic Glycogen Storage Diseases

Journal of Inborn Errors of Metabolism and Screening, 2017
The third international meeting of the Scandinavian Association for Glycogen Storage Disease focused on hepatic glycogen storage disease and was organized for health-care professionals, patient representatives, and representatives from the industry. This
Terry G. J. Derks MD, PhD, Antal Nemeth MD, PhD, Katrin Adrian MD, PhD, Henrik Arnell MD, PhD, Ann Bech Roskjær RD, Eva Beijer MD, Sebastiaan te Boekhorst BICT, Carina Heidenborg RD, Marcus Landgren MD ,PhD, Mikael Nilsson RD, Domniki Papadopoulou MD, Katalin Ross RD, Elisabeth Sjöqvist RD, U Stachelhaus-Theimer MD, Ulrike Steuerwald MD, Carl-Johan Törnhage MD, PhD, David A. Weinstein MD, PhD   +16 more
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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
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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
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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
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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
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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
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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
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Short and long-term acceptability and efficacy of extended-release cornstarch in the hepatic glycogen storage diseases: results from the Glyde study

Orphanet Journal of Rare Diseases
Background Hypoglycaemia is the primary manifestation of all the hepatic types of glycogen storage disease (GSD). In 2008, Glycosade®, an extended-release waxy maize cornstarch, was reported as an alternative to uncooked cornstarch (UCCS) which could ...
DA Weinstein, RJ Jackson, EA Brennan, M Williams, JE Davison, F de Boer, TGJ Derks, C Ellerton, B Faragher, J Gribben, P Labrune, KM McKittrick, E Murphy , KM Ross, U Steuerwald, C Voillot, AJM Woodward, HR Mundy   +17 more
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