Results 161 to 170 of about 5,162 (179)

High‐Risk Screening for Fabry Disease: Analysis by Tandem Mass Spectrometry of Globotriaosylceramide (Gb₃) in Urine Collected on Filter Paper

Current Protocols in Human Genetics, 2017
AbstractFabry disease is a complex, panethnic lysosomal storage disorder. It is characterized by the accumulation of glycosphingolipids in tissues, organs, the vascular endothelium, and biological fluids. The reported incidence in different populations is quite variable, ranging from 1:1400 to 1:117,000.
Christiane, Auray-Blais, Pamela, Lavoie, Michel, Boutin, Mona, Abaoui   +3 more
openaire   +2 more sources

Analysis of globotriaosylceramide (Gb 3 ) isoforms/analogs in unfractionated leukocytes, B lymphocytes and monocytes from Fabry patients using ultra-high performance liquid chromatography/tandem mass spectrometry

Analytica Chimica Acta, 2018
Fabry disease is an X-linked lysosomal storage disorder with marked variability in the phenotype and genotype. Glycosphingolipids such as globotriaosylceramide (Gb3) isoforms/analogs, globotriaosylsphingosine (lyso-Gb3) and analogs, and galabiosylceramide (Ga2) isoforms/analogs may accumulate in biological fluids and different organs.
Amanda, Toupin, Pamela, Lavoie, Marie-Françoise, Arthus, Mona, Abaoui, Michel, Boutin, Carole, Fortier, Claudia, Ménard, Daniel G, Bichet, Christiane, Auray-Blais   +8 more
openaire   +2 more sources

HTA65 The Relationship between Globotriaosylceramide (GB3), Globotriaosylsphingosine (LYSO-GB3) and Disease-Related Clinical Events in Patients with Fabry Disease

Value in Health, 2022
K Azimpour, E Kim, M Musat, L Monfort, E Cha   +4 more
openaire   +1 more source

Efficacy of targeted nanoliposomes in reducing globotriaosylceramide (Gb3) accumulation in mouse models of Fabry disease

Molecular Genetics and Metabolism, 2022
Marc Moltó-Abad, Zamira-V Díaz Riascos, Judit Tomsen-Melero, Elisabet González-Mira, Josefina Casas, Edgar Cristóbal-Lecina, Albert Font, José Luis Corchero, Daniel Pulido, Andreu Soldevila, Miriam Royo, Alba Córdoba, Josep Merlo-Mas, Lidia Ferrer, Santi Sala, Sandra Mancilla-Zamora, Monserrat Llaguno-Munive, Paula Zamora-Pérez, Belén Garcia-Prats, Nora Ventosa, Ibane Abasolo   +20 more
openaire   +1 more source

Dataset for the Publication "Evidence for hippocampal globotriaosylceramide (Gb3) accumulation and spatial memory impairment in a mouse model of Fabry disease"

Fabry disease (FD) is an X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene that reduce α-galactosidase A activity and lead to progressive accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids. In the human brain, Gb3 deposition is reported predominantly within the endothelium of small cerebral ...
Rimondini, Roberto, Caprini, Marco
openaire   +1 more source

Dataset related to the Publication "Evidence for hippocampal globotriaosylceramide (Gb3) accumulation and spatial memory impairment in a mouse model of Fabry disease"

Fabry disease (FD) is an X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene that reduce α-galactosidase A activity and lead to progressive accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids. In the human brain, Gb3 deposition is reported predominantly within the endothelium of small cerebral ...
Rimondini, Roberto, Caprini, Marco
openaire   +1 more source

Synthesis of a Deuterium-Labeled Globotriaosylceramide Probe for Potential Imaging of Subcellular Localization of Gb3 Using NanoSIMS

Russian Journal of Organic Chemistry, 2021
M. R. E. Aly, I. H. El Azab
openaire   +1 more source

Globotriaosylceramide (Gb3) contributes to LoVo/Dx chemoresistance

2023
openaire   +1 more source

Tu-P7:239 Cellular and tissue distribution of globotriaosylceramide (GB3) in fabry disease (FD)

Atherosclerosis Supplements, 2006
H. Askari, D. Kleiner, C. Kaneski, L. Spollen, R. Schiffmann   +4 more
openaire   +1 more source

ChemInform Abstract: A Practical and Enantioselective Synthesis of Glycosphingolipids and Related Compounds. Total Synthesis of Globotriaosylceramide (Gb3).

ChemInform, 1989
K. C. NICOLAOU, T. CAULFIELD, H. KATAOKA, T. KUMAZAWA   +3 more
openaire   +1 more source