Results 11 to 20 of about 957 (152)

Screening and diagnosis of Fabry disease in chronic kidney disease: the important role of globotriaosylsphingosine [PDF]

Kidney Research and Clinical Practice
Jung-ho Shin, Su Hyun Kim
doaj   +4 more sources

Plasma Globotriaosylsphingosine and α-Galactosidase A Activity as a Combined Screening Biomarker for Fabry Disease in a Large Japanese Cohort [PDF]

Current Issues in Molecular Biology, 2021
Fabry disease is an X-linked disorder of α-galactosidase A (GLA) deficiency. Our previous interim analysis (1 July 2014 to 31 December 2015) revealed plasma globotriaosylsphingosine as a promising primary screening biomarker for Fabry disease probands ...
Hiroki Maruyama, Atsumi Taguchi, Mariko Mikame, Atsushi Izawa, Naoki Morito, Kazufumi Izaki, Toshiyuki Seto, Akifumi Onishi, Hitoshi Sugiyama, Norio Sakai, Kenji Yamabe, Yukio Yokoyama, Satoshi Yamashita, Hiroshi Satoh, Shigeru Toyoda, Michihiro Hosojima, Yumi Ito, Ryushi Tazawa, Satoshi Ishii   +18 more
doaj   +3 more sources

Epithelial-Mesenchymal Transition in Kidney Tubular Epithelial Cells Induced by Globotriaosylsphingosine and Globotriaosylceramide. [PDF]

PLoS ONE, 2015
Fabry disease is a lysosomal storage disorder caused by deficiency of alpha-galactosidase A (α-gal A), which results in the deposition of globotriaosylceramide (Gb3) in the vascular endothelium.
Yeo Jin Jeon, Namhee Jung, Joo-Won Park, Hae-Young Park, Sung-Chul Jung   +4 more
doaj   +5 more sources

A Rapid and Simple UHPLC-MS/MS Method for Quantification of Plasma Globotriaosylsphingosine (lyso-Gb3) [PDF]

Molecules, 2021
Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by α-galactosidase A gene (GLA) mutations, resulting in loss of activity of the lysosomal hydrolase, α-galactosidase A (α-Gal A).
Alessandro Perrone, Susan Mohamed, Vincenzo Donadio, Rocco Liguori, Manuela Contin   +4 more
doaj   +3 more sources

Globotriaosylsphingosine accumulation and not alpha-galactosidase-A deficiency causes endothelial dysfunction in Fabry disease.

PLoS ONE, 2012
BackgroundFabry disease (FD) is caused by a deficiency of the lysosomal enzyme alpha-galactosidase A (GLA) resulting in the accumulation of globotriaosylsphingosine (Gb3) in a variety of tissues.
Mehdi Namdar, Catherine Gebhard, Rafael Studiger, Yi Shi, Pavani Mocharla, Christian Schmied, Pedro Brugada, Thomas F Lüscher, Giovanni G Camici   +8 more
doaj   +6 more sources

Migalastat HCl reduces globotriaosylsphingosine (lyso-Gb3) in Fabry transgenic mice and in the plasma of Fabry patients. [PDF]

PLoS ONE, 2013
Fabry disease (FD) results from mutations in the gene (GLA) that encodes the lysosomal enzyme α-galactosidase A (α-Gal A), and involves pathological accumulation of globotriaosylceramide (GL-3) and globotriaosylsphingosine (lyso-Gb3).
Brandy Young-Gqamana, Nastry Brignol, Hui-Hwa Chang, Richie Khanna, Rebecca Soska, Maria Fuller, Sheela A Sitaraman, Dominique P Germain, Roberto Giugliani, Derralynn A Hughes, Atul Mehta, Kathy Nicholls, Pol Boudes, David J Lockhart, Kenneth J Valenzano, Elfrida R Benjamin   +15 more
doaj   +6 more sources

Monitoring globotriaosylsphingosine in a Korean male patient with Fabry disease

Kidney Research and Clinical Practice, 2019
Heejoon Jang, Kwon Wook Joo, Seung Seok Han   +2 more
doaj   +3 more sources

Case Report: Diagnostic challenges in Fabry disease: misinterpreted obstructive hypertrophic cardiomyopathy and the role of enzyme replacement therapy [PDF]

Frontiers in Cardiovascular Medicine
Fabry disease (FD) is a rare X-linked inherited lysosomal storage disorder. The abnormal accumulation of metabolic substrates induces inflammation and fibrosis in cells, resulting in organ dysfunction.
Weili Cheng, Mingqiang Ao, Dinghu Xu, Yuqing Zhang, Qin Tao   +4 more
doaj   +2 more sources

Distributions of Globotriaosylceramide Isoforms, and Globotriaosylsphingosine and Its Analogues in an α-Galactosidase A Knockout Mouse, a Model of Fabry Disease.

PLoS ONE, 2015
Fabry disease is caused by deficient activity of α-galactosidase A (GLA) and characterized by systemic accumulation of glycosphingolipids, substrates of the enzyme.
Hideaki Sueoka, Mikio Aoki, Takahiro Tsukimura, Tadayasu Togawa, Hitoshi Sakuraba   +4 more
doaj   +3 more sources

Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study

Frontiers in Medicine, 2023
ObjectiveFabry disease is a progressive disorder caused by deficiency of the α-galactosidase A enzyme (α-Gal A), leading to multisystemic organ damage with heterogenous clinical presentation.
Daniel G. Bichet, Robert J. Hopkin, Patrício Aguiar, Patrício Aguiar, Sridhar R. Allam, Sridhar R. Allam, Yin-Hsiu Chien, Yin-Hsiu Chien, Roberto Giugliani, Roberto Giugliani, Staci Kallish, Sabina Kineen, Olivier Lidove, Olivier Lidove, Dau-Ming Niu, Dau-Ming Niu, Iacopo Olivotto, Juan Politei, Paul Rakoski, Roser Torra, Camilla Tøndel, Camilla Tøndel, Derralynn A. Hughes   +22 more
doaj   +1 more source