Results 41 to 50 of about 74,859 (354)

Metabolic Control, Quality of Life, and Body Image in Patients with Glycogen Storage Disease Type Ia [PDF]

, 2019
Glycogen storage disease is a group of inborn errors of metabolism, with type Ia being the most common form of the disorder. Glycogen storage disease type Ia (GSDIa) is a multisystemic condition in which individuals have various complications secondary ...
Bream, Alexa
core   +1 more source

Exploration of heterogeneity and recurrence signatures in hepatocellular carcinoma

Molecular Oncology, EarlyView.
This study leveraged public datasets and integrative bioinformatic analysis to dissect malignant cell heterogeneity between relapsed and primary HCC, focusing on intercellular communication, differentiation status, metabolic activity, and transcriptomic profiles.
Wen‐Jing Wu, Jianchao Wang, Fuqing Chen, Xuefeng Wang, Bin Lan, Ruyi Fu, Hong Wen, Fangfang Chen, Wei Hong, Tian‐Yu Tang, Ying He, Gang Chen, Jianyin Zhou, Hai‐Long Piao, Di Chen, Shu‐Yong Lin   +15 more
wiley   +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

Infantile Onset Glycogen Storage Disease Type 2: Case Report

Güncel Pediatri, 2014
Glycogen storage disease type 2 (Pompe’s disease) is an autosomal recessive, fatal glycogen storage disease presenting with hypotonia and muscle weakness. It is known that deficiency of lysosomal acid alpha-glucosidase (acid maltase) leads to progressive
Serkan Bilge Koca, Emine Polat, Bahtışen Bayram, Gizem Ürel, Saliha Şenel, İlyas Okur   +5 more
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

Mesenchymal Stem Cells‐Derived Extracellular Vesicles Mimetics as Osteoinductive Mediators for Bone Healing

Advanced Functional Materials, EarlyView.
Mesenchymal stem cell‐derived nanoghosts (MSC‐NGs) mimic naturally secreted extracellular vesicles (MSC‐EVs) in structure and physicochemical properties but can be synthesized at more translatable yields. As osteogenic agents, MSC‐NGs demonstrate superior outcomes compared to MSC‐EVs.
Antoine Karoichan, Ling Li, Celine J. Agnes, Bettina M. Willie, Maryam Tabrizian   +4 more
wiley   +1 more source

Alleviation of a polyglucosan storage disorder by enhancement of autophagic glycogen catabolism

EMBO Molecular Medicine, 2021
This work employs adult polyglucosan body disease (APBD) models to explore the efficacy and mechanism of action of the polyglucosan‐reducing compound 144DG11.
Or Kakhlon, Hilla Vaknin, Kumudesh Mishra, Jeevitha D’Souza, Monzer Marisat, Uri Sprecher, Shane Wald‐Altman, Anna Dukhovny, Yuval Raviv, Benny Da’adoosh, Hamutal Engel, Sandrine Benhamron, Keren Nitzan, Sahar Sweetat, Anna Permyakova, Anat Mordechai, Hasan Orhan Akman, Hanna Rosenmann, Alexander Lossos, Joseph Tam, Berge A. Minassian, Miguel Weil   +21 more
doaj   +1 more source

Liver Transplantation for Glycogen Storage Disease Type IV

Frontiers in Pediatrics, 2021
Glycogen storage disease type IV (GSD IV) is a rare autosomal recessive disorder caused by glycogen–branching enzyme (GBE) deficiency, leading to accumulation of amylopectin–like glycogen that may damage affected tissues.
Min Liu, Min Liu, Li-Ying Sun, Li-Ying Sun, Li-Ying Sun   +4 more
doaj   +1 more source

β‐1,3 Glucan Microparticles & Nanoparticles: Fabrication Methods & Applications in Immunomodulation & Targeted Drug Delivery

Advanced Healthcare Materials, EarlyView.
Beta‐glucans have gained significant attention as an immunomodulatory biomaterial with cell‐targeting capabilities. This review comprehensively outlines the design and fabrication methods for producing beta‐glucan particles at both the micro and nanoscale and their applications in immune cell targeting, immunomodulation, and drug delivery ...
Nate Dowdall, Todd Hoare
wiley   +1 more source

Current Clinical Guidelines for the Management of Patients with Glycogen Storage Disease

Педиатрическая фармакология
Glycogen storage disease refers to hereditary pathologies of carbohydrate metabolism, its cause is mutations of various genes encoding enzymes responsible for the synthesis and breakdown of glycogen.
Natalia A. Averkina, Madlena E. Bagaeva, Aleksander A. Baranov, Nato D. Vashakmadze, Elena A. Vishneva, Olga S. Gundobina, Nataliya V. Zhurkova, Elena V. Kaitukova, Elena V. Komarova, Tea V. Margieva, Leyla S. Namazova-Baranova, Valeria P. Novikova, Elena E. Petryaykina, Mariya M. Platonova, Aleksander S. Potapov, Olga Ya. Smirnova, Tatiana V. Strokova, Andrey N. Surkov, Nataliya N. Taran, Marina V. Fedoseenko, Nataliya A. Semenova, Inga V. Anisimova, Svetlana A. Repina, Dmitriy M. Subbotin, Valeria V. Sviridova, Anatoliy I. Havkin, Ekaterina A. Yablokova, Galina V. Volynets, Irina V. Sadovnikova, Elena L. Tumanova   +29 more
doaj   +1 more source