Results 131 to 140 of about 1,308 (153)

What about the excretion of lyso-Gb3 in Fabry adults compared to children?

Molecular Genetics and Metabolism, 2014
Christiane Auray-Blais, Catherine-Marie Blais, Michel Boutin, Pamela Lavoie   +3 more
openaire   +1 more source

Lyso-Gb3: A valid follow-up marker of treatment in male Fabry disease patients?

Molecular Genetics and Metabolism, 2020
Susanne Walls, Miia Rainto, Ilkka Kantola   +2 more
openaire   +1 more source

A specific, sensitive, simplified and fast LC-MS/MS method for plasma Lyso-GB3 levels

2019
[No abstract available]
Canbay, E., Sezer, E., Ucar, S. Kalkan, Coker, M., Sozmen, E.   +4 more
openaire   +1 more source

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 Macher
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

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  

Tandem Mass Spectrometry Multiplex Analysis of Lyso-Gb3-Related Analogs for Fabry Disease

Molecular Genetics and Metabolism, 2012
Pamela Lavoie, René Gagnon, Michel Boutin, Félix Dupont, Christiane Auray-Blais   +4 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

Glucosylceramide Synthase Inhibition Reduces Gb3 and Lyso-Gb3 in a Mouse Model Of Fabry Disease

Molecular Genetics and Metabolism, 2012
John Marshall, Karen Ashe, Dinesh Bangari, Wei-Lien Chuang, Bing Wang, Jennifer Nietupski, Robert Desnick, John Leonard, Ronald Scheule, Seng Cheng   +9 more
openaire   +1 more source