Results 31 to 40 of about 6,242,042 (194)

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

Evidence of Cardiomyocyte Necrosis in Glycogen Storage Disease type-II

, 2007
Adult-onset glycogen storage disease type II (GSD-II), unlike the infantile form, is not normally associated with coexisting cardiovascular pathologies. In infantile onset GSD-II, cardiomyopathy is a common feature, and mutations in the genes for cardiac
Lawson, G. J., Collinson, P.O., Gaze, D.C., Harris, A.   +3 more
core   +1 more source

Glycogen Storage Disease Type Ib: The First Case in Taiwan

, 2011
Glycogen storage disease (GSD) type Ib is caused by the deficiency of glucose-6-phosphate translocase activity. The elder brother of the proband died at age 20 months, and GSD Ia, a disease caused by the deficiency of glucose-6- phosphatase, was the ...
HSIAO, HUI-JU;CHANG, HSIU-HAO;HWU, WUH-LIANG;LAM, CHING-WAN;LEE, NI-CHUNG;CHIEN, YIN-HSIU, 蕭惠如;張修豪;胡務亮;林青雲;李妮鍾;簡穎秀   +1 more
core   +1 more source

Glycogen storage disease type III : A novel Agl knockout mouse model [PDF]

, 2014
Glycogen storage disease type III is an autosomal recessive disease characterized by a deficiency in the glycogen debranching enzyme, encoded by AGL.
M. Moggio, N. Bresolin, S. Lucchiari, R. Violano, G.P. Comi, M. Ripolone, S. Corti, A. Bordoni, G. Ulzi, S. Gatti, S. Pagliarani, M. Nizzardo   +11 more
core   +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

Glycemic control and complications in glycogen storage disease type I: Results from the Swiss registry. [PDF]

, 2019
BACKGROUND Regular carbohydrate intake to avoid hypoglycemia is the mainstay of dietary treatment in glycogen storage disease type I (GSDI). The aim of this study was to evaluate the quality of dietary treatment and glycemic control in a cohort of ...
Kaiser, Nathalie, Baumgartner, Matthias R, Hochuli, Michel, Bosanska, Lenka, Meienberg, Fabian, Spinas, Giatgen A, Gautschi, Matthias   +6 more
core   +1 more source

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
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

Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin

, 2014
Purpose: Glycogen storage diseases are a group of inborn errors of glycogen synthesis or catabolism. The outcome for untreated patients can be devastating.
Wang, Jing;Cui, Hong;Lee, Ni-Chung;Hwu, Wuh-Liang;Chien, Yin-Hsiu;Craigen, William J.;Wong, Lee-Jun;Zhang, Victor Wei, 胡務亮 ;李妮鍾 ;簡穎秀   +1 more
core   +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