Results 141 to 150 of about 6,638 (157)

Globotriaosylsphingosine (Lyso-GB3 bzw. Lyso-GL3), an Excellent Biomarker for Children with Fabry Disease

Neuropediatrics, 2017
N. Karabul, T. Marquardt, M. Petersen, A. Beckmann, E. Namal, T. Lücke   +5 more
openaire   +1 more source

Globotriaosylsphingosine (lyso-GB3) as useful marker for monitoring initial therapeutic outcomes of enzyme replacement therapy for patients with Fabry disease

Molecular Genetics and Metabolism, 2016
Elena Verrecchia, Maria Giovinale, Alessandra Paolucci, Daniela Antuzzi, Raffaele Manna   +4 more
openaire   +1 more source

Pulmonary involvement in Fabry disease: effect of plasma globotriaosylsphingosine (Lyso-Gb3) and time to initiation of enzyme replacement therapy, an observational study

Molecular Genetics and Metabolism, 2018
Albina Nowak, Sarah H. Haile, David C. Kasper, Thomas P. Mechtler, Andreas J. Flammer, Pierre A. Krayenbuehl, Daniel P. Franzen   +6 more
openaire   +1 more source

Accurate quantitation of plasma globotriaosylsphingosine (lyso-Gb3) in normal individuals and Fabry disease patients by liquid chromatography–tandem mass spectrometry (LC–MS/MS)

Molecular Genetics and Metabolism, 2015
Rick Hamler, Nastry Brignol, Robert E. Boyd, Daniel G. Bichet, Dominique P. Germain, Roberto Giugliani, Derralyn A. Hughes, Raphael Schiffmann, William R. Wilcox, Hadis N. Williams, Julie Yu, Jay Barth, Jeff Castelli, Kenneth J. Valenzano, Elfrida R. Benjamin   +14 more
openaire   +1 more source

Effect of long-term migalastat treatment on plasma globotriaosylsphingosine (lyso-Gb3) levels in patients with Fabry disease previously treated with enzyme replacement therapy: Results from ATTRACT and open-label extension studies

Molecular Genetics and Metabolism, 2019
Daniel Bichet, Jay A. Barth, Hadis Williams, Nina Skuban   +3 more
openaire   +1 more source

Globotriaosylsphingosine (lyso-Gb3) and analogues in plasma and urine of patients with Fabry disease and correlations with long-term treatment and genotypes in a nationwide female Danish cohort

Journal of Medical Genetics, 2021
Michel Boutin, Grigoris Effraimidis, Christiane Auray-Blais   +2 more
exaly  

Assessment of plasma lyso-Gb3 for clinical monitoring of treatment response in migalastat-treated patients with Fabry disease

Genetics in Medicine, 2021
Atul Mehta, Christiane Auray-Blais, Raphael Schiffmann   +2 more
exaly  

Tandem Mass Spectrometry Quantitation of Lyso-Gb3 and Six Related Analogs in Plasma for Fabry Disease Patients

Current Protocols in Human Genetics, 2016
Michel Boutin, Christiane Auray-Blais, Mona Abaoui   +2 more
exaly  

Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis

Genetics in Medicine, 2019
Satoshi Ishii, Ryushi Tazawa, Atsumi Taguchi   +2 more
exaly  

Fabry Disease Biomarkers: Analysis of Urinary Lyso-Gb3 and Seven Related Analogs Using Tandem Mass Spectrometry

Current Protocols in Human Genetics, 2016
Michel Boutin, Christiane Auray-Blais, Mona Abaoui   +2 more
exaly