Results 21 to 30 of about 615,949 (181)

Acute hepatitis induced by insulin overdose and oral glucose administration in a child managed under a hybrid continuous care model [PDF]

Endocrinology, Diabetes & Metabolism Case Reports
Acute hepatitis was reported in a 10-year-old male patient with type 1 diabetes, believed to be due to hepatic glycogenosis from insulin overdose and oral glucose administration.
Judy Kattan, Kowshik Gupta, Hala Zakaria, Sheikha Alshehhi, Noah Almarzooqi, Ali Hashemi, Ihsan Almarzooqi   +6 more
doaj   +2 more sources

Liver transplantation in glycogen storage disease type III: A case-series. [PDF]

JIMD Rep
Abstract Glycogen storage disease type III (GSD III) is a rare metabolic disorder characterized by a deficiency of liver and muscle amylo‐1,6‐glucosidase. This condition presents with severe hepatic symptoms in childhood, mostly hepatomegaly, hypoglycemia in half of patients, while muscular complications may predominate in adulthood.
Gay S, Bigot A, d'Alteroche L, Dujardin F, Fromont-Hankard G, Tressel N, Salame E, Maillot F.   +7 more
europepmc   +2 more sources

Cardiopulmonary and skeletal muscle strategies underlying exhaustive exercise in adults with glycogen storage disease type III. [PDF]

Physiol Rep
Abstract People with glycogen storage disease type III (GSDIII‐p) have a remarkably reduced exercise tolerance. Aim of this study was to analyze the oxygen transport‐utilization chain strategies adopted by GSDIII‐p during exercise. Nine GSDIII‐p (39.4 ± 10.0 year, 33% female) and 11 healthy controls (CTRL), age and gender matched, underwent an ...
Lanfranconi F, Peli L, Pollastri L, Ferri A, Tremolizzo L, Conti E, Pieruzzi F, Miserocchi G, Beretta E, Marzorati M, Zardo W, Gasperini S, Pretese R, Paci S, Capelli C, Mariani R, Cattoni A, Balduzzi AC, Parini R.   +18 more
europepmc   +2 more sources

LIVER TRANSPLANTATION IN CHILDREN WITH GLYCOGEN STORAGE DISEASES: RISK ASSESSMENT AND NECESSITY OF THIS PROCEDURE [PDF]

Вестник трансплантологии и искусственных органов, 2013
Glycogen storage diseases I, III and IV types are congenital disorders, which are commonly associated with severe liver diseases. Liver transplantation has been proposed as a treatment of choise for these disorders.
S. V. Gautier, O. M. Tsirulnikova, D. S. Mnatsakanyan, I. M. Ilyinsky, N. P. Mozheiko   +4 more
doaj   +5 more sources

Generation and characterization of a novel Gaa compound heterozygous mouse model recapitulating human Pompe disease [PDF]

Orphanet Journal of Rare Diseases
Background Pompe disease (PD), caused by a deficiency in acid α-glucosidase (GAA), is a lysosomal storage disorder. Existing Gaa knockout and point mutation mouse models have substantially advanced mechanistic understanding, but most are homozygous for ...
Wenjun Huang, Jie Wang, Yafei Zhou, Hongyu Xiao, Kaichong Jiang, Jiale Cui, Yanmin Zhang, Rui Zhou   +7 more
doaj   +2 more sources

New aspect of hepatic nuclear glycogenosis in diabetes [PDF]

Journal of Clinical Pathology, 1968
Three cases of nuclear glycogenosis in the liver of diabetic patients have been studied by electron microscopy. In addition to the glycogen deposits described by others, an unusual intranuclear glycogen-filled body was found in all three cases. This body occurred alone or in close contact with the major glycogen deposit.
G Menghini
exaly   +3 more sources

Physical exercise intervention in glycogen storage disease IIIa: Feasibility and multisystem benefits. [PDF]

Exp Physiol
Abstract Glycogen storage disease III (GSD‐III) is caused by an inherited deficiency of the glycogen debranching enzyme. Affecting the liver, muscle and heart, GSD‐IIIa is the most common GSD‐III subtype. We evaluated the feasibility and safety of a physical exercise intervention in patients with GSD‐IIIa and its effects at the multisystem level.
Bustos-Sellers A, Montalvo-Pérez A, Boraita A, Saco-Ledo G, Alejo LB, Barranco-Gil D, Valenzuela PL, López-Maldonado N, Ferrer-Costa R, Esparcia-Estrela J, Monteagudo-López C, Pinós T, Santos-Lozano A, Lucia A, Santalla A.   +14 more
europepmc   +2 more sources

Type I glycogenosis with renal tubular dysfunction (presentation of two cases) [PDF]

The Turkish Journal of Pediatrics, 1993
Two patients with hepatic glycogenosis associated with Fanconi syndrome are presented. Both patients were treated with a neutral phosphorus solution, an oral alkaline solution, cholecalciferol and uncooked cornstarch.
A Yüce, T Coşkun, N Koçak, S Ozsoylu, I Ozalp, S Göğüş   +5 more
doaj   +1 more source

Glycogen storage diseases: Twenty‐seven new variants in a cohort of 125 patients [PDF]

Molecular Genetics & Genomic Medicine, 2019
Background Hepatic glycogen storage diseases (GSDs) are a group of rare genetic disorders in which glycogen cannot be metabolized to glucose in the liver because of enzyme deficiencies along the glycogenolytic pathway.
Fernanda Sperb-Ludwig, Franciele Cabral Pinheiro, Malu Bettio Soares, Tatiele Nalin, Erlane Marques Ribeiro, Carlos Eduardo Steiner, Eugênia Ribeiro Valadares, Gilda Porta, Carolina Fishinger Moura de Souza, Ida Vanessa Doederlein Schwartz   +9 more
doaj   +2 more sources

Continuous glucose monitoring in children with glycogenosis [PDF]

Alʹmanah Kliničeskoj Mediciny, 2017
Rationale: Glycogen storage diseases (GSD, glycogenosis) are a group of hereditary disorders of carbohydrate metabolism that is characterized by excess glycogen accumulation in various organs and tissues due to deficiency or absence of glycogen-splitting
T. V. Strokova, I. V. Prokhorova, A. G. Surkov, M. E. Bagaeva, E. V. Pavlovskaya, N. N. Taran, A. I. Zubovich   +6 more
doaj   +2 more sources