Results 161 to 170 of about 7,193 (177)

Accuracy diagnosis improvement of Fabry disease from dried blood spots: Enzyme activity, lyso-Gb3 accumulation and GLA gene sequencing

Clinical Genetics, 2021
Juan M Guerrero, Hada C Macher, José Diego Santotoribio   +2 more
exaly  

Relative quantification of seven urinary Lyso-Gb3 analogues as Fabry disease biomarkers

Molecular Genetics and Metabolism, 2013
Pamela Lavoie, Michel Boutin, Christiane Auray-Blais   +2 more
openaire   +1 more source

Relative contribution of acid ceramidase and alfa-galactosidase a to lyso-Gb3 and severity in Fabry disease

Molecular Genetics and Metabolism, 2020
Lucia Lavalle, Matthew Reed, Hansika Raja, Hatim Ebrahim, Carmen Ganzaráin Pina, Derralynn Hughes   +5 more
openaire   +1 more source

Lyso-Gb3 as a biomarker for renal and cardiac involvement in Fabry disease: An analysis from the Fabry Outcome Survey (FOS)

Molecular Genetics and Metabolism, 2022
Uma Ramaswami, Gheona Altarescu, Maria Fuller, Kathleen Nicholls, Guillem Pintos-Morell, Joan Torrás, Jaco Botha, Christina Anagnostopoulou, Roberto Giugliani   +8 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  

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

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

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

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