Results 61 to 70 of about 13,856,572 (229)

Glycogen storage disease, an uncommon cause of portal hypertension in adulthood.

Annals of Hepatology
Introduction and Objectives: Glycogen storage diseases are inborn errors of metabolism, with an estimated incidence of 1 in 10,000. Type IV represents 3% of this diseases (GBE1 gene 3p14 involvement), presenting with varied clinical features, including a
Jessica Valencia Chávez, José Luis Moras Villela, Aleida Bautista Santos, Fany Gabriela Juárez Aguilar   +3 more
doaj   +1 more source

Status and future of recombinant adeno‐associated virus vector manufacturing

Biotechnology Progress, EarlyView.
Abstract Sixty years of adeno‐associated virus (AAV) research illustrates a trajectory marked by basic science exploration, iterative innovation, persistent challenges, a number of clinical setbacks, as well as commercial therapeutic triumphs. This continual evolution has led to recombinant AAV (rAAV) becoming a cornerstone of modern gene therapy ...
Frank Agbogbo, David Dismuke
wiley   +1 more source

Glycogen Storage Disease Type IV: A Case Report

, 2017
Glycogen storage disease type IV (GSD-IV) "Andersen's disease" is an autosomal recessive disorder due to a deficiency of glycogen branching enzyme (GBE). We report a four years old female patient with glycogen storage disease type-IV who exhibited an abdominal distension and failure to thrive since the age of 9 months.
Tahia H. Saleem, Hamdy N. Eltalawy, Ahmed El-Abd Ahmed, Nagla H. Abu-faddan, Yasser Gamal, Mohammed H. Hassan   +5 more
openaire   +2 more sources

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

Pulmonary arterial hypertension and type-I glycogen-storage disease: the serotonin hypothesis

, 2002
A case of pulmonary arterial hypertension in a patient with type-Ia glycogen-storage disease, a rare autosomal recessive disorder caused by a deficiency of glucose-6-phosphatase is reported in this study.
O. Sitbon (6612065), C. Le Gall (17253343), J. Callebert (17253352), M. Humbert (762823), L. Drouet (17253355), P. Hervé (17253358), D. Samuel (17253346), J. M. Launay (17253349), R. Trembath (17189008), P. Labrune (6642692), G. Simonneau (7688798), Rajiv Machado (17162539)   +11 more
core   +5 more sources

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

Identification of Therapeutic Targets in a Glycogen Storage Disease Type IV Mouse Model

, 2018
Adult polyglucosan body disease (APBD) is a neurological, adult-onset variant of glycogen storage disease type IV caused by mutations in the glycogen branching enzyme gene.
Chown, Erin
core   +2 more sources

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

Engineering mRNA‐LNP Medicines for the Ageing Brain: Opportunities and Challenges for Neurodegenerative Diseases

Exploration, EarlyView.
This review highlights recent advances in engineering messenger RNA (mRNA)‐lipid nanoparticles (LNPs) to cross the ageing blood–brain barrier and target neurodegenerative diseases. It outlines design principles, delivery routes, and translational challenges, charting a roadmap towards clinical application of mRNA‐LNP therapeutics for neurodegenerative ...
Abdel Ali Belaidi, Denzil L. Furtado, Francesca Alves, Rebecca M. Nisbet, Scott Ayton, Ashley I. Bush   +5 more
wiley   +1 more source

Human biomarker navigator

iMeta, EarlyView.
The Human Biomarker Navigator integrates the disease continuum, biomarker dynamics, cross‐organ biomarker networks, biomarker classification, and technology‐driven paradigms. It maps how biomarkers link multi‐system physiology and pathology across the nervous, respiratory, endocrine, circulatory, immune, digestive, urinary, reproductive, and ...
Meng‐Yao Li, Qian Zhang, Zijie Wang, Zeping Gui, Jing Liu, Jingda Li, Maojun Jiang, Zukang Chang, Qingqing Han, Bendong Yang, Tariq Saeed, Jun Li, Jinghan Jia, Chenghu Song, Tong Shao, Tianhuan Peng, Xueying Zhang, Pingping Guo, Jun Luo, Gangao Yang, Yuan Wan, Gokhan Zengin, Quan Yuan, Lingru Li, Xiaohui Fan, Yang Luo, Lvyun Zhu, Yanfei Zheng, Wenjun Mao, Wenlong Sun   +29 more
wiley   +1 more source