Results 71 to 80 of about 38,348 (306)

A novel sequence of the PHKG 2 mutation associated with the first case of glycogen storage diseases type IXc in Syria: a case report and review of literature

Journal of Medical Case Reports
Background Glycogen storage diseases are a group of inherited metabolic disorders that affect the body’s ability to break down and/or store glycogen. Type IX glycogen storage disease is an inherited disorder caused by a deficiency of phosphorylase kinase,
Seba Harh, Shaza Shahoud, Shady Daher, Diana Alasmar   +3 more
doaj   +1 more source

Effect of soiling agents on disinfection efficacy of a pulsed‐xenon UV lamp towards Listeria monocytogenes on stainless steel surfaces

The Canadian Journal of Chemical Engineering, EarlyView.
This study quantifies the effects of different soils found in the food processing environment on the efficiency of pulsed‐xenon UV disinfection. Abstract Listeria monocytogenes is a foodborne illness that poses a significant threat to human health in young, old, and immunocompromised persons and accordingly, prevention of Listeria contamination is of ...
Nazanin Yasoubi, William A. Anderson, Valerie C. A. Ward   +2 more
wiley   +1 more source

Streptozotocin induced hyperglycemia in the axolotl

Developmental Dynamics, EarlyView.
Abstract Background Diabetes is a group of diseases characterized by loss of β cell mass and/or function, resulting in hyperglycemia. With no established curative treatment, this has initiated research in β cell regeneration. Current animal models have either limited regenerative capacity (mice) or small size and evolutionary distance from humans ...
Pernille Lajer Sørensen, Anita Dittrich, Henrik Lauridsen   +2 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  

Powerful yet challenging: mechanistic niche models for predicting invasive species potential distribution under climate change

Ecography, EarlyView.
Risk assessments of invasive species present one of the most challenging applications of species distribution models (SDMs) due to the fundamental issues of distributional disequilibrium, niche changes, and truncation. Invasive species often occupy only a fraction of their potential environmental and geographic ranges, as their spatiotemporal dynamics ...
Erola Fenollosa, Sean E. H. Pang, Natalie J. Briscoe, Antoine Guisan, Roberto Salguero-Gómez   +4 more
wiley   +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

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

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

Brain Damage in Glycogen Storage Disease Type I

Pediatric Neurology Briefs, 2004
The occurrence of brain damage in 19 patients (13 girls and 6 boys) with glycogen storage disease type I (GSDI) was evaluated at the Universita “Federico II”, Naples, Italy.
J Gordon Millichap
doaj   +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