Results 51 to 60 of about 3,943 (193)

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, Barboza Quintana, Oralia, Barboza Quintana, Álvaro, Garza Alatorre, Arturo Gerardo, Melo de la Garza, Américo, Ponce Camacho, Marco Antonio, Ramírez Bon, Enrique, Rodríguez Gutiérrez, Nora Alicia   +7 more
core  

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

PAS-positive lymphocyte vacuoles can be used as diagnostic screening test for Pompe disease [PDF]

, 2010
Screening of blood films for the presence of periodic acid-Schiff (PAS)-positive lymphocyte vacuoles is sometimes used to support the diagnosis of Pompe disease, but the actual diagnostic value is still unknown.
Marloes L. C. Hagemans, Rolinda L. Stigter, Carine I. van Capelle, Nadine A. M. E. van der Beek, Leon P. F. Winkel, Laura van Vliet, Wim C. J. Hop, Arnold J. J. Reuser, Auke Beishuizen, Ans T. van der Ploeg, G Anderson, JB Bain, T Barsy de, FGJ Hayhoe, K Ikeda, BJ Maron, WJ Mitus, F Muntoni, T Okumiya, V Straub, V Straub, PS Trend, AT Ploeg van der, OP Diggelen van, DB Bassewitz von, B Winchester, LP Winkel, LP Winkel   +27 more
core   +1 more source

GM1 gangliosidosis: Case report

Medicinski pregled, 2010
Introduction. Gangliosidoses occur due to inhereted deficiency of human ? - galaktosidase,resulting in the accumulation of glicophyngolipides within the lisosomes. Clinical manifestations of lysosomal storage disorders are remarkably heterogeneous, they can appear at any age and each of them can vary from mild to severe conditions.
Slobodan Obradovic, Olivera Laban, Zoran Igrutinovic, Biljana Vuletic, Ana Vujic, Jasmina Djindjic   +5 more
openaire   +3 more sources

Mapping the Cerebral Organoid Landscape: A Systematic Review of Preclinical 3D Models in Neuroscience

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, Vanessa Arnold, Maik Wolfram‐Schauerte, Anastassiya Moskalchuk, Caroline Trust, Marie Vontz, Mona Scheurenbrand, Vijayasarathy Sampath‐Kumar, Sogand Ahari, Carlos Romero‐Nieto, Lisa Sevenich   +10 more
wiley   +1 more source

Human GLB1 knockout cerebral organoids: A model system for testing AAV9-mediated GLB1 gene therapy for reducing GM1 ganglioside storage in GM1 gangliosidosis

Molecular Genetics and Metabolism Reports, 2019
GM1 gangliosidosis is an autosomal recessive neurodegenerative disorder caused by the deficiency of lysosomal β-galactosidase (β-gal) and resulting in accumulation of GM1 ganglioside.
Yvonne L. Latour, Robin Yoon, Sarah E. Thomas, Christina Grant, Cuiling Li, Miguel Sena-Esteves, Maria L. Allende, Richard L. Proia, Cynthia J. Tifft   +8 more
doaj   +1 more source

SERS‐Based Nano‐ and Microsystems Toward Biomedical Applications

Small, Volume 22, Issue 28, 18 May 2026.
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, Tijana Maric, Isidro Badillo‐Ramírez, Juliane Fjelrad Christfort, Matteo Tollemeto, Carmen Milan Guimera, Casper Nisula, Giulia Zappalá, Laura De Vittorio, Marta Rubio‐Huertas, Sungyeong Kim, Ziqiao Li, Morten Bo Søndergaard Svendsen, Zhongyang Zhang, Anja Boisen   +14 more
wiley   +1 more source

Refining Humane Endpoints in Mouse Models of Disease by Systematic Review and Machine Learning-Based Endpoint Definition [PDF]

, 2019
Ideally, humane endpoints allow for early termination of experiments by minimizing an animal’s discomfort, distress and pain, while ensuring that scientific objectives are reached.
Banneke, Stefanie, Dirnagl, Ulrich, Emmrich, Julius V., Endres, Matthias, Harms, Christoph, Hoffmann, Christian J., Kuffner, Melanie T. C., Lips, Janet, Mei, Jie   +8 more
core   +1 more source

Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene

BMC Medical Genetics, 2017
Background Type II or juvenile GM1-gangliosidosis is an autosomal recessive lysosomal storage disorder, which is clinically distinct from infantile form of the disease by the lack of characteristic cherry-red spot and hepatosplenomegaly.
Parvaneh Karimzadeh, Samaneh Naderi, Farzaneh Modarresi, Hassan Dastsooz, Hamid Nemati, Tayebeh Farokhashtiani, Bibi Shahin Shamsian, Soroor Inaloo, Mohammad Ali Faghihi   +8 more
doaj   +1 more source

Epidemiology of progressive intellectual and neurological deterioration in UK children

Developmental Medicine &Child Neurology, Volume 68, Issue 3, Page 418-428, March 2026.
This study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Christopher M. Verity, Polly J. Maunder, Anne Marie Winstone, Suvankar Pal   +3 more
wiley   +1 more source