Results 41 to 50 of about 7,809 (216)
Epileptic Disorders, EarlyView.Abstract Objective The olive oil–based Mediterranean ketogenic diet (MedKD) may support patients with drug‐resistant epilepsy (DRE) or neurometabolic disorders by integrating ketogenic therapy with the cardiometabolic and neuroprotective advantages of the Mediterranean diet.
Sofia Zouganeli +8 more
wiley +1 more source
GM1 - gangliosidosis in a Nigerian infant: A case report
Nigerian Journal of Paediatrics, 2021 Gangliosidoses belong to the group of genetic lipid metabolism disorders, caused by defects of lysosome enzymes, inherited as an autosomal recessive trait. Gangliosidosis GM1 is caused by the deficiency of the acid beta galactosidase (GLB11) resulting in
Abdullahi M Sakina +3 more
doaj
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
Development of a Next-Generation Sequencing (NGS) Gene Panel for Lysosomal Storage Diseases [PDF]
, 2017 Molecular genetic testing has not been used extensively as the primary diagnostic test for LSDs but this may change with the advent of rapid, reliable and affordable high-throughput DNA sequencing, the so called next generation sequencing.
Alves, Sandra +5 more
core +5 more sources
Stem Cell ResearchGM1 gangliosidosis is an autosomal recessive lysosomal storage disorder caused by defects in the beta-galactosidase (GLB1) gene, which results in accumulation of GM1 gangliosides and related glycoconjugates in the lysosomes leading to lysosomal swelling,
Jingyun Guan +5 more
doaj +1 more source
SERS‐Based Nano‐ and Microsystems Toward Biomedical Applications
Small, EarlyView.This review provides a current overview of nano‐ and microscale SERS‐based devices, encompassing all aspects from material design to practical applications. We highlight controlled SERS‐active architectures, including patterned substrates, nanorods, microspheres, micromotors, and microneedles, as well as combinations of these microfluidic systems.
Gohar Soufi +14 more
wiley +1 more source
A Fatal Case of Generalized Lysosomal Storage Disease in an Infant. [PDF]
, 2010 Gangliosidoses are a heterogeneous group of lysosomal storage diseases with an autosomal recessive trait, which are characterized by the intracellular accumulation of gangliosides in several tissues, mainly in neurons.
Ancer Rodríguez, Jesús +7 more
core
NCLs and ER: A stressful relationship. [PDF]
, 2017 The Neuronal Ceroid Lipofuscinoses (NCLs, Batten disease) are a group of inherited neurodegenerative disorders with variable age of onset, characterized by the lysosomal accumulation of autofluorescent ceroid lipopigments.
Marotta, D, Mole, SE, Tinelli, E
core +1 more source
Advanced Healthcare Materials, Volume 15, Issue 18, 15 May 2026.Cerebral organoids are transforming brain research, yet the field remains fragmented. This comprehensive systematic review maps 738 studies published between 2014 and 2024 to uncover trends, gaps, and opportunities across neuroscience. Introducing OrganoidMap—an interactive, open‐access platform to explore and compare models—this work enables ...
Anna Wolfram +10 more
wiley +1 more source
EBioMedicine, 2023 Summary: Background: GM1 gangliosidosis is a rare, fatal, neurodegenerative disease caused by mutations in the GLB1 gene and deficiency in β-galactosidase.
Pamela Kell +16 more
doaj +1 more source