Results 51 to 60 of about 6,242,042 (194)

Glycogen storage disease in two sisters: A case report

, 2023
Key Clinical Message Glycogen storage diseases (GSDs) are rare autosomal disorders that result from defects in glycogen metabolism. There are more than 12 types, each with distinct clinical features.
Ram Chandra Rijal, Sajal Twanabasu, Prabin Duwadee, Jeevan Ghimire, Sushan Homagain   +4 more
core   +1 more source

GYS1 or PPP1R3C deficiency rescues murine adult polyglucosan body disease

Annals of Clinical and Translational Neurology, 2020
Objective Adult polyglucosan body disease (APBD) is an adult‐onset neurological variant of glycogen storage disease type IV. APBD is caused by recessive mutations in the glycogen branching enzyme gene, and the consequent accumulation of poorly branched ...
Erin E. Chown, Peixiang Wang, Xiaochu Zhao, Justin J. Crowder, Jordan W. Strober, Mitchell A. Sullivan, Yunlin Xue, Cody S. Bennett, Ami M. Perri, Bret M. Evers, Peter J. Roach, Anna A. Depaoli‐Roach, H. Orhan Akman, Bartholomew A. Pederson, Berge A. Minassian   +14 more
doaj   +1 more source

Iliopsoas abscess as a complication of glycogen storage disease 1b [PDF]

, 2017
We present a case of iliopsoas abscess secondary to inflammatory bowel disease associated to glycogen storage disease 1b in a 12-year-old boy.
Montero-Sánchez, Margarita, Gómez-Veiras, Javier, José Ramón Fernández-Lorenzo, Fernández-Lorenzo, José Ramón, José Luis Vázquez, Margarita Montero-Sánchez, Marcos Prada-Arias, Bao-Corral, Alfonso, Alfonso Bao-Corral, Vázquez, José Luis, Prada-Arias, Marcos, Javier Gómez-Veiras   +11 more
core   +1 more source

Isolated glycogen storage disease of the heart

Российский кардиологический журнал, 2019
Isolated glycogen storage disease of the heart (PRKAG2 syndrome) is a form of glycogenosis, which is characterized by left ventricular hypertrophy, similar to the phenotype of hypertrophic cardiomyopathy, associated with pre-excitation of the ventricles ...
S. M. Komissarova, N. M. Rineiskaya, N. N. Chakova, S. S. Niyazova, L. I. Plashchinskaya   +4 more
doaj   +1 more source

A novel sequence of the PHKG 2 mutation associated with the first case of glycogen storage diseases type IXc in Syria: a case report and review of literature

Journal of Medical Case Reports
Background Glycogen storage diseases are a group of inherited metabolic disorders that affect the body’s ability to break down and/or store glycogen. Type IX glycogen storage disease is an inherited disorder caused by a deficiency of phosphorylase kinase,
Seba Harh, Shaza Shahoud, Shady Daher, Diana Alasmar   +3 more
doaj   +1 more source

Efficacy of Gene Therapy in Dogs with Glycogen Storage Disease Type Ia

, 2009
Glycogen storage diseases (GSD) are inherited metabolic disorders that affect glycogen use and storage. People with GSD Ia lack the enzyme glucose-6-phosphatase (G6Pase).
Crane, Bayley
core  

Clinical features and genetic analysis of 7 patients with late-onset glycogen storage disease typeⅡ

Chinese Journal of Contemporary Neurology and Neurosurgery, 2014
Objective In order to make a well understanding on glycogen storage disease typeⅡ (GSDⅡ), this paper explored clinical features and genetic analysis of 7 patients with late-onset glycogen storage disease typeⅡ.
Juan YANG, Ji-qing CAO, Zhen-hua LIU, Yi-xin ZHAN, Ying-yin LIANG, Gui-ling MO, Ya-qin LI, Yi-ming SUN, Min-zi LI, Jing LI, Cheng ZHANG   +10 more
doaj  

Chimerism after Liver Transplantation for Type IV Glycogen Storage Disease and Type 1 Gaucher's Disease [PDF]

, 1993
Background: Liver transplantation for type IV glycogen storage disease (branching-enzyme deficiency) results in the resorption of extrahepatic deposits of amylopectin, but the mechanism of resorption is not known.
Kendall, Ross S, Ricordi, C, Kendall, RS, Zeevi, Adriana, Starzl, Thomas E, Van Thiel, David, Zeevi, A, Trucco, M, Terasaki, Paul I, Demetris, Anthony J, Ildstad, S, Kocova, M, Ricordi, Camillo, Van Thiel, D, Trucco, Massimo, Kocoua, M, Terasaki, PI, Murase, Noriko, Starzl, TE, Demetris, AJ, Ildstad, Suzanne, Rudert, WA, Kocova, Mirjana, Murase, N, Rudert, William A   +24 more
core   +1 more source

Glycogen storage disease type 0 due to a novel frameshift mutation in glycogen synthase 2 (GYS2) gene in a child presenting with fasting hypoglycemia and postprandial hyperglycemia

The Turkish Journal of Pediatrics, 2018
Glycogen storage disease type 0 (GSD0) has been considered a rare disorder, it is characterized with ketotic hypoglycemia after prolonged fasting and postprandial hyperglycemia.
Bülent Hacıhamdioğlu, Gamze Özgürhan, Bahar Çaran, Evrim Meydan-Aksanlı, Ece Keskin   +4 more
doaj   +1 more source

Glycogen storage disease presenting as Cushing syndrome

JIMD Reports, 2019
Impaired growth is common in patients with glycogen storage disease (GSD), who also may have “cherubic” facies similar to the “moon” facies of Cushing syndrome (CS). An infant presented with moon facies, growth failure, and obesity. Laboratory evaluation
Margaret A. Stefater, Joseph I. Wolfsdorf, Nina S. Ma, Joseph A. Majzoub   +3 more
doaj   +1 more source