Results 161 to 170 of about 4,207 (192)

Studies on GM1-gangliosidosis, type II

Acta Neuropathologica, 1974
Post-mortem studies on a 6-year old boy with GM1-gangliosidosis, Type II revealed no evidence of accumulation of residual bodies nor of gangliosides or glycoproteins in liver and spleen. In brain tissue the ganglioside GM1 accounted for 70% of the ganglioside fraction and ganglioside-NANA was increased 3.6 fold over controls.
V, Patel, H H, Goebel, I, Watanabe, W, Zeman   +3 more
openaire   +2 more sources

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

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

A pentasaccharide for monitoring pharmacodynamic response to gene therapy in GM1 gangliosidosis

EBioMedicine, 2023
Pamela Kell, Mingxing Qian, Elena‐Raluca Nicoli   +2 more
exaly  

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

Natural history of GM1 gangliosidosis—Retrospective cohort study of 61 French patients from 1998 to 2019

Journal of Inherited Metabolic Disease, 2023
Soumeya Bekri, Roseline Froissart, Thierry Levade   +2 more
exaly  

The natural history of Type 1 infantile GM1 gangliosidosis: A literature-based meta-analysis

Molecular Genetics and Metabolism, 2020
Frederick M Lang, Cynthia J Tifft
exaly