Results 51 to 60 of about 12,643 (191)
Biological Reviews, Volume 101, Issue 2, Page 911-925, April 2026.ABSTRACT Three categories of explanations exist for why we age: mechanistic theories, which omit reference to evolutionary forces; weakening force of selection theories, which posit that barriers exist that prevent evolutionary forces from optimising fitness in ageing; and optimisation theories, which posit that evolutionary forces actually select for ...
Michael S. Ringel
wiley +1 more source
Orphanet Journal of Rare Diseases, 2020 Background The GM2 gangliosidoses (GM2), Tay-Sachs and Sandhoff diseases, are rare, autosomal recessive genetic disorders caused by mutations in the lysosomal enzyme β-hexosaminidase A (HEXA) or β-hexosaminidase B (HEXB) genes, respectively.
Nicole Lyn +9 more
doaj +1 more source
Clinical Case Reports, Volume 14, Issue 4, April 2026.ABSTRACT Auditory‐triggered motor events in infancy present a significant diagnostic challenge due to overlap between epileptic and non‐epileptic startle phenomena. We report the case of a term female infant with neonatal‐onset seizures and subsequent development of reproducible sound‐triggered jerky movements, raising diagnostic uncertainty between ...
Aakash Pandit +5 more
wiley +1 more source
Alkaline Phosphatase and Infantile GM1 Gangliosidosis: A Simple Biomarker for a Complex Disease?
JIMD Reports, Volume 67, Issue 2, March 2026.ABSTRACT GM1 gangliosidosis is a lysosomal storage disease (LSD) caused by β‐galactosidase deficiency, characterized by the accumulation of gangliosides in various tissues. Among different GM1 forms (infantile form, late‐infantile and juvenile form, and late‐onset form), the infantile form is the most severe: despite an early clinical onset with rapid ...
Laura Fiori +19 more
wiley +1 more source
Journal of Lipid Research, 1972 Analyses have been made of glycosphingolipids from visceral organs and brain of a patient with an unusual lipid storage disorder diagnosed initially as classical Tay-Sachs disease. Levels of the lipids from fresh-frozen sections of gray and white matter,
Paul D. Snyder, Jr. +2 more
doaj +1 more source
Characterization of inducible models of Tay-Sachs and related disease. [PDF]
PLoS Genetics, 2012 Tay-Sachs and Sandhoff diseases are lethal inborn errors of acid β-N-acetylhexosaminidase activity, characterized by lysosomal storage of GM2 ganglioside and related glycoconjugates in the nervous system.
Timothy J Sargeant +5 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 +3 more
wiley +1 more source
Sphingolipids in Emotional Well‐Being
Journal of Neurochemistry, Volume 170, Issue 2, February 2026.Sphingolipids are essential constituents of neuronal membranes and are increasingly recognized as contributors to the key behavioral manifestations associated with emotional well‐being. ABSTRACT Emotional well‐being is a multifactorial concept, which comprises not only life quality of human individuals, but also their mental and physical health.
L. S. Kalinichenko +4 more
wiley +1 more source
Chitotriosidase as a biomarker for gangliosidoses
Molecular Genetics and Metabolism Reports, 2021 Elevated serum chitotriosidase (CHITO) is an indication of macrophage activation, and its capacity have been explored as a marker of inflammation in a number of disease states.
Sarah Kim +2 more
doaj +1 more source
Ariel - Volume 5 Number 3 [PDF]
, 1972 Editor J.D. Kanofsky Entertainment Editors Robert Breckenridge Gary Kaskey Overseas Editor Mike Sinason Staff Ken Jaffe Bob Sklaroff Janet Weish David Jacoby Circulation Editor Jay Amsterdam Humorist Jim ...
Browning, Clifford +7 more
core +1 more source