Results 121 to 130 of about 172,120 (351)

RESULTS OF LIFE QUALITY EVALUATION IN CHILDREN WITH HEPATIC VARIANT OF GLYCOGEN DISEASE

Педиатрическая фармакология, 2013
Glycogen storage disease (glycogenosis) is a common name for a group of hereditary diseases characterized by excessive accumulation of glycogen with normal or altered structure in various organs and tissues, most often – in liver and muscles.
A. N. Surkov, V. V. Chernikov, A. A. Baranov, L. S. Namazova-Baranova, A. S. Potapov, I. V. Vinyarskaya   +5 more
doaj   +1 more source

Tophaceous gout in a female premenopausal patient with an unexpected diagnosis of glycogen storage disease type Ia: a case report and literature review

Clinical Rheumatology, 2016
A young female with recurrent tophaceous gout and infertility presented to our clinic. On clinical evaluation, hypoglycaemia, hypertriglyceridaemia, lactic acidosis, and hepatomegaly were noted.
Bingqing Zhang, Xuejun Zeng
semanticscholar   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 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

Tip 1 Glikojen Depo Hastalığı Olan Bir Çocukta Distal Renal Tübüler Disfonksiyon ve Kalsiyum Taş Hastalığı: Vaka Sunumu

Turkish Journal of Nephrology, 2019
Type 1 glycogen storage disease is caused by glucose-6-phosphatase deficiency and nephrolithiasis is the most common renal complication. Although urate stones are the most common stone type, metabolic alterations favoring calcium nephrolithiasis has also
Yeşim ÖZTÜRK, Uluç YİŞ, Alper SOYLU, Mehmet TÜRKMEN, Salih KAVUKÇU, Benal BÜYÜKGEBİZ   +5 more
doaj   +2 more sources

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

Acute Renal Failure Requiring Renal Replacement Therapy Due to McArdle Disease

Turkish Journal of Nephrology, 2019
McArdle Disease (Glycogen Storage Disorder Type V) is one of the most common inherited genetic alterations known to increase the risk of rhabdomyolysis.
Hasan ERGENÇ, Bilgehan ACAR, Saadet SAYAN, Savaş SİPAHİ   +3 more
doaj  

Buck Wheat: Nutritional, Bioactive Characteristics, Health Benefits, and Side Effects

Future Postharvest and Food, EarlyView.
ABSTRACT Micronutrient deficits have resulted from an over‐reliance on a small number of cereal crops for food security. The agricultural sector faces severe sustainability issues due to the rapid growth of the world's population and sudden climatic changes.
Momina Farooq, Sajad Ahmad Mir, Zahida Naseem   +2 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