Results 171 to 180 of about 4,196 (206)

The Clinical and Molecular Spectrum of GM1 Gangliosidosis

The Journal of Pediatrics, 2019
To evaluate the clinical presentation of patients with GM1 gangliosidosis and to determine whether specific clinical or biochemical signs could lead to a prompt diagnosis.We retrospectively analyzed clinical, biochemical, and genetic data of 22 patients with GM1 gangliosidosis from 5 metabolic centers in Germany and Austria.Eight patients were ...
Laila, Arash-Kaps, Katalin, Komlosi, Marlene, Seegräber, Stefan, Diederich, Eduard, Paschke, Yasmina, Amraoui, Skadi, Beblo, Andrea, Dieckmann, Martin, Smitka, Julia B, Hennermann   +9 more
openaire   +2 more sources

Neuroimaging findings in infantile GM1 gangliosidosis

European Journal of Paediatric Neurology, 2006
GM1 gangliosidosis is an autosomal recessive glycosphingolipid storage disease caused by defects in the enzyme beta-galactosidase. Three clinical forms (infantile-, juvenile-, and adult-onset) of the disease are recognized. Patients with infantile GM1 gangliosidosis present at birth or shortly thereafter with somatic and bony changes, followed by ...
Ilknur, Erol, Füsun, Alehan, M Ali, Pourbagher, Oguz, Canan, S, Vefa Yildirim   +4 more
openaire   +2 more sources

Pathologic Findings in Fetal GM1 Gangliosidosis

Archives of Neurology, 1986
A 24-week fetus with GM1 gangliosidosis (type 1) was studied using biochemical and histopathologic methods. Foam cells in viscera and placenta demonstrated widespread accumulation of a lipidlike material. By microscopy, central nervous system storage appeared confined to the retina and dorsal root ganglia, but the brain ganglioside content was ...
F R, Bieber, G, Mortimer, E H, Kolodny, S G, Driscoll   +3 more
openaire   +2 more sources

Chemical chaperone therapy for GM1-gangliosidosis

Cellular and Molecular Life Sciences, 2008
We have proposed a chemical chaperone therapy for lysosomal diseases, based on a paradoxical phenomenon that an exogenous competitive inhibitor of low molecular weight stabilizes the target mutant molecule and restores its catalytic activity as a molecular chaperone intracellularly.
openaire   +2 more sources

GM1 gangliosidosis

Journal of the Neurological Sciences, 1974
G M, Taori, D K, Basu, S, Chandi, P T, Raman, J, Abraham, R, Leelavathy, C K, Job   +6 more
openaire   +2 more sources

GM1 Gangliosidosis

2023
Udara D. Senarathne, Neluwa-Liyanage R. Indika, Eresha Jasinge, Karolina M. Stepien   +3 more
openaire   +1 more source

Gm1 Gangliosidosis Type I

American Journal of Ophthalmology, 1973
M J, Weiss, A E, Krill, G, Dawson, J, Hindman, E, Cotlier   +4 more
openaire   +2 more sources

GM1 Ganglioside Is A Key Factor in Maintaining the Mammalian Neuronal Functions Avoiding Neurodegeneration

International Journal of Molecular Sciences, 2020
Elena Chiricozzi, Giulia Lunghi, Erika Di Biase   +2 more
exaly  

GM1 gangliosidosis in friesian calves

The Journal of Pathology, 1973
W J, Donnelly, B J, Sheahan, T A, Rogers
openaire   +2 more sources

Systemic deficiency of GM1 ganglioside in Parkinson’s disease tissues and its relation to the disease etiology

Glycoconjugate Journal, 2022
Suman Chowdhury
exaly