Results 201 to 210 of about 56,286 (316)

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

Lysosomal storage disorders in nonimmune hydrops fetalis diagnosed by exome sequencing. [PDF]

Orphanet J Rare Dis
Makhamreh MM, Shivashankar K, Rice SM, Wodoslawsky S, Grant C, McLaren R, Berger SI, Al-Kouatly HB.   +7 more
europepmc   +1 more source

D-30 BIOMARKERS FOR LYSOSOMAL STORAGE DISORDERS: CLINICAL APPROACH

, 2018
Sema Kalkan Uçar
openalex   +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

Cardioprotective effects of CoQ10 in pediatric patients with lysosomal storage disorders. [PDF]

Ital J Pediatr
Abuzaid Y, Suliman GAM, Toulba OARER, Elezz AAEBA, Badraldeen A, Dawoud H.   +5 more
europepmc   +1 more source

Lysosomal fusion and SNARE function are impaired by cholesterol accumulation in lysosomal storage disorders. [PDF]

EMBO J, 2022
Fraldi A, Annunziata F, Lombardi A, Kaiser HJ, Luis Medina D, Spampanato C, Olind Fedele A, Polishchuk R, Sorrentino NC, Simons K, Ballabio A.   +10 more
europepmc   +1 more source

INTRACELLULAR DNA DELIVERY USING POLYMERIC NANOPARTICLES FOR LYSOSOMAL STORAGE DISORDERS GENE THERAPY

, 2017
Eleonora De Martino
openalex   +1 more source

Caenorhabditis elegans as a model for lysosomal storage disorders

, 2008
Gert de Voer, Dorien J.M. Peters, Peter E.M. Taschner   +2 more
openalex   +2 more sources

A two‐sample Mendelian randomization study and mediation analysis exploring the link between cathepsins and epilepsy

Epilepsia Open, EarlyView.
Abstract Objective This study aims to investigate the causal relationship between cathepsins and epilepsy, using Mendelian randomization (MR) and mediation analysis. Methods Publicly accessible summary statistics on epilepsy were obtained from FinnGen and the International League Against Epilepsy Consortium.
Huaiyu Sun, Di Ma, Wuqiong Zhang, Shuai Hou, Zhiqing Chen, Xuewei Li, Hongmei Meng, Daguang Zhang   +7 more
wiley   +1 more source

Role of the Lactide:Glycolide Ratio in PLGA Nanoparticle Stability and Release under Lysosomal Conditions for Enzyme Replacement Therapy of Lysosomal Storage Disorders. [PDF]

J Funct Biomater, 2023
Del Moral M, Loeck M, Muntimadugu E, Vives G, Pham V, Pfeifer P, Battaglia G, Muro S.   +7 more
europepmc   +1 more source