Results 21 to 30 of about 80,863 (210)

Lafora disease offers a unique window into neuronal glycogen metabolism [PDF]

, 2018
Lafora disease (LD) is a fatal, autosomal recessive, glycogen-storage disorder that manifests as severe epilepsy. LD results from mutations in the gene encoding either the glycogen phosphatase laforin or the E3 ubiquitin ligase malin. Individuals with LD
Gentry, Matthew S., Guinovart, Joan J., Minassian, Berge A., Roach, Peter J., Serratosa, Jose M.   +4 more
core   +2 more sources

Liver transplantation for type IV glycogen storage disease [PDF]

, 1991
TYPE IV glycogen storage disease is a rare autosomal recessive disorder (also called Andersen's disease1 or amylopectinosis) in which the activity of branching enzyme alpha-1, 4-glucan: alpha-1, 4-glucan 6-glucosyltransferase is deficient in the liver as
Andreas Tzakis, Bannayan, Barbara I. Brown, Brown, Eduardo Yunis, Greene, Illingworth, Ishihara, Ishihara, Mazzaferro, McMaster, Reed, Rick Selby, Ross S. Kendall, Schochet, Stand, Starzl, Thomas E. Starzl   +17 more
core   +1 more source

Liver Glycogen Phosphorylase Deficiency Leads to Profibrogenic Phenotype in a Murine Model of Glycogen Storage Disease Type VI

Hepatology Communications, 2019
Mutations in the liver glycogen phosphorylase (Pygl) gene are associated with the diagnosis of glycogen storage disease type VI (GSD‐VI). To understand the pathogenesis of GSD‐VI, we generated a mouse model with Pygl deficiency (Pygl−/−).
Lane H. Wilson, Jun‐Ho Cho, Ana Estrella, Joan A. Smyth, Rong Wu, Tayoot Chengsupanimit, Laurie M. Brown, David A. Weinstein, Young Mok Lee   +8 more
doaj   +1 more source

Management of Children with Glycogen Storage Disease (Liver Involvement Forms). Best Practice Guidelines

Педиатрическая фармакология, 2020
Glycogen storage disease is the hereditary carbohydrate metabolism pathology which is caused by mutations in various genes encoding enzymes responsible for glycogenesis and glycogenolysis. Excessive glycogen deposition in various tissues cells (mostly in
Alexander A. Baranov, Leyla S. Namazova-Baranova, Andrey N. Surkov, Olga S. Gundobina, Elena A. Vishneva, Tea V. Margieva, Nato D. Vashakmadze, Liliya R. Selimzyanova   +7 more
doaj   +1 more source

Very early-onset inflammatory bowel disease: Novel description in glycogen storage disease type Ia

Molecular Genetics and Metabolism Reports, 2022
Although inflammatory bowel disease is a well-described feature of glycogen storage disease type Ib, it has been reported in only a small number of individuals with glycogen storage disease type Ia (GSDIa).
William B. Hannah, Ricardo C. Ong, Margarita Nieto Moreno, Surekha Pendyal, Monica Abdelmalak, Judith Kelsen, Nancy M. McGreal, Priya S. Kishnani   +7 more
doaj   +1 more source

Liver transplantation for type I and type IV glycogen storage disease [PDF]

, 1993
Progressive liver failure or hepatic complications of the primary disease led to orthotopic liver transplantation in eight children with glycogen storage disease over a 9-year period.
A. G. Tzakis, AS Guerra, B Illingworth, B. I. Brown, BI Brown, BI Brown, BI Brown, CA Alper, D Raum, DA Merrill, E. Yunis, GA Bannayan, GB Reed, GM Greene, GT Cori, H Zellweger, HG Hers, HL Greene, IT Ferguson, JJ Malatack, JJ Siekierka, KR McMaster, MW Harding, N Kashiwagi, N Kashiwagi, R. S. Kendall, R. Selby, RC Nordlie, S Servidei, S. Todo, T Ishihara, T. E. Starzl, TE Starl, TE Starzl, TE Starzl, TE Starzl, TE Starzl, V Mazzaferro   +37 more
core   +1 more source

Diabetes mellitus in a patient with glycogen storage disease type Ia: a case report

Journal of Medical Case Reports, 2017
Background Glycogen storage disease type Ia is a genetic disorder that is associated with persistent fasting hypoglycemia and the inability to produce endogenous glucose. The development of diabetes with glycogen storage disease is exceedingly rare.
Aviva Cohn, Anupam Ohri
doaj   +1 more source

AAV-mediated transcription factor EB (TFEB) gene delivery ameliorates muscle pathology and function in the murine model of Pompe Disease [PDF]

, 2017
Pompe disease (PD) is a metabolic myopathy due to acid alpha-glucosidase deficiency and characterized by extensive glycogen storage and impaired autophagy.
Alvino, Filomena Grazia, Auricchio, Alberto, Ballabio, Andrea, Carrella, Alessandra, De Leonibus, Elvira, Diez-roux, Graciana, Gatto, Francesca, Iacobellis, Francesca, Nusco, Edoardo, Parenti, Giancarlo, Polishchuk, Elena, Polishchuk, Roman, Rossi, Barbara, Tarallo, Antonietta   +13 more
core   +1 more source

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.
Adriana Zeevi, Anthony J. Demetris, Camillo Ricordi, David Van Thiel, Desnick RJ, Massimo Trucco, Mirjana Kocova, Neufeld EF, Noriko Murase, Paul I. Terasaki, Ross S. Kendall, Suzanne Ildstad, Thomas E. Starzl, William A. Rudert   +13 more
core   +1 more source

Cardiac manifestations of PRKAG2 mutation. [PDF]

, 2018
BACKGROUND:The Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2 (PRKAG2) cardiac syndrome is characterized by glycogen accumulation in the cardiac tissue.
Ardehali, Reza, Banankhah, Pooya, Dota, Anthony, Fishbein, Gregory A   +3 more
core   +1 more source