Results 141 to 150 of about 1,308 (153)

Plasma lyso-Gb3 in Fabry disease: Helpful distinguishing phenotypes, but not as predictor of organ involvement

Molecular Genetics and Metabolism, 2019
Patricio Aguiar, Olga Azevedo, Jacira Marino, José Luís Ducla Soares, Derralynn Hughes   +4 more
openaire   +1 more source

Do we need lyso Gb3 measurement in monitoring Fabry disease?

Molecular Genetics and Metabolism
Ilkka Kantola, Antti-Pekka Annala, Tiina Maria Helioe, Aki Hietaharju, Taru Kantola, Johanna Kuusisto, Minna M. Kylmälä, Risto Lapatto, Kai Nyman, Paivi Pietila Effati, Jukka Saarinen, Lorenzo Sandini, Jyrki Taurio, Mary Vaarpu, Kati Valtola, Susanne Walls, Iina Yliaska   +16 more
openaire   +1 more source

The 2-year follow-up results of lyso-GB3 levels in patients with Fabry disease

Molecular Genetics and Metabolism, 2018
Kultigin Turkmen, Nedim Yılmaz Selcuk, Halil Zeki Tonbul, Ismail Baloglu   +3 more
openaire   +1 more source

Lyso-Gb3 is as a primary biomarker for Fabry disease screening among high-risk contingents

Molecular Genetics and Metabolism, 2019
Kirill Savostyanov, Alexander Pushkov, Natalya Mazanova, Lolita Pak, Lyudmila Kuzenkova, Tatyana Podkletnova, Alexander Pakhomov, Alexey Sukhozhenko, Sergey Moiseev   +8 more
openaire   +1 more source

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
exaly  

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

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
exaly  

Elevated Lyso-Gb3 Suggests the R118C GLA Mutation Is a Pathological Fabry Variant

JIMD Reports, 2018
Kathy Nicholls, Andrew Talbot
exaly  

Multiplex Tandem Mass Spectrometry Analysis of Novel Plasma Lyso-Gb3-Related Analogues in Fabry Disease

Analytical Chemistry, 2014
Michel Boutin, Christiane Auray-Blais
exaly  

Lyso-Gb3 modulation of gut microbiota biofilms: Potential contribution to Fabry disease gastrointestinal symptoms and systemic complications

Molecular Genetics and Metabolism, 2019
Maria Dolores Sanchez-Niño, Patricia Madrazo, Alberto Ortiz, Jaime Estegan, John Jairo Aguilera Correa   +4 more
openaire   +1 more source