Results 111 to 120 of about 130,693 (343)

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 type III: diagnosis, genotype, management, clinical course and outcome

Journal of Inherited Metabolic Disease, 2016
Glycogen storage disease type III (GSDIII) is a rare disorder of glycogenolysis due to AGL gene mutations, causing glycogen debranching enzyme deficiency and storage of limited dextrin. Patients with GSDIIIa show involvement of liver and cardiac/skeletal
C. P. Sentner, Irene J. Hoogeveen, David A. Weinstein, R. Santer, E. Murphy, P. McKiernan, U. Steuerwald, Nicholas J. Beauchamp, J. Taybert, P. Laforêt, François Petit, A. Hubert, P. Labrune, G. Smit, T. Derks   +14 more
semanticscholar   +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  

First National Expanded Genomic Newborn Screening Program in Qatar; A Pilot Study, Doha‐Heidelberg Collaboration

American Journal of Medical Genetics Part A, EarlyView.
Reem Alsulaiman, Sarah Okashah, Radja Messai Badji, Fatemeh Abbaszadeh, Yaser Alsarraj, Rehab Ali Abdulrahman, Noora Shahbeck, Thalib Moideen, Reema El Hassan, Fatima Al‐Hamaydeh, Einas Alkuwari, Said Ismail, Hilal Al‐ Rifai, Ghassan Abdoh, Christian P. Schaaf, Georg Hoffmann, Saad Al‐Kaabi, Wadha Al‐Muftah, Tawfeg Ben‐Omran   +18 more
wiley   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

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  

Exercise‐specific plasma proteomic signatures in racehorses: Candidates for training adaptation and peak load monitoring

Equine Veterinary Journal, EarlyView.
Abstract Background Racehorses undergo profound physiological changes with training and competition, but current biomarkers inadequately capture the complex molecular dynamics of exercise. This study aimed to identify novel plasma biomarkers of training adaptation and peak load using high‐throughput proteomics.
Jowita Grzędzicka, Bianka Świderska, Ewa Sitkiewicz, Izabela Dąbrowska, Olga Witkowska‐Piłaszewicz   +4 more
wiley   +1 more source

Clinical periodontal diagnosis

Periodontology 2000, EarlyView., 2023
Abstract Periodontal diseases include pathological conditions elicited by the presence of bacterial biofilms leading to a host response. In the diagnostic process, clinical signs such as bleeding on probing, development of periodontal pockets and gingival recessions, furcation involvement and presence of radiographic bone loss should be assessed prior ...
Giovanni E. Salvi, Andrea Roccuzzo, Jean‐Claude Imber, Alexandra Stähli, Björn Klinge, Niklaus P. Lang   +5 more
wiley   +1 more source

Recent Perspectives on Phytochemical Profile, Pharmacological Activities, and Industrial Applications of Guava (Psidium guajava)

Food Safety and Health, EarlyView.
Psidium guajava leaves contain potent bioactive compounds like quercetin, myricetin, and triterpenoids that show antioxidant, antidiabetic, anti‐inflammatory, and anticancer effects. They act by modulating NF‐κB, PPARγ, and α‐glucosidase and by inducing apoptosis and cell cycle arrest.
Muhammad Waqar, Sehrish Jabbar, Qudrat Ullah, Farhang Hameed Awlqadr, Muhammad Tayyab Arshad, Md. Sakhawot Hossain, Sammra Maqsood, Ali Ikram, Ammar Ahmad Khan, Worawan Panpipat, Manat Chaijan   +10 more
wiley   +1 more source

Molecular and clinical characterization of Colombian patients suffering from type III glycogen storage disease

, 2017
Introduction: Type III glycogen storage disease (GSD III) is an autosomal recessive disorder in which a mutation in the AGL gene causes deficiency of the glycogen debranching enzyme.
Diana di Filippo, Sepúlveda, María Elsy, Navas Navas, María Cristina, Carolina Mantilla, Juan Álvaro López, Toro, Mónica, Toro Martínez, Mónica, Mónica Toro, di Filippo, Diana, Sepúlveda Hincapié, María Elsy, Mantilla Rojas, Carolina, Mantilla, Carolina, Navas, María Cristina, Baquero, Carolina, María Cristina Navas, López, Juan Álvaro, Arias Sierra, Andrés Augusto, María Elsy Sepúlveda, Andrés Augusto Arias, Margarita Insuasty, Insuasty, Margarita, di Filippo Villa, Diana Carolina, Arias, Andrés Augusto, Carolina Baquero   +23 more
core   +1 more source